# docId iri curationType latestSearchDate lastUpdated lastAuthor context contextIri release geneOrVariant geneOmim disease omim mondo consensusAssertion status-assertion status-overall status-stg1 AC100 /AC100 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 04 Aug 2021 21:09:20 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC100 1.1.3 FBN1 134797 Marfan Syndrome 154700 0007947 Definitive Actionability Complete Released Complete AC011 /AC011 Gene-Condition Fri Nov 16 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:24:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC011 1.1.3 WAS 300392 WAS-related disorders 300299 0010294 Moderate Actionability Complete Released Complete AC011 /AC011 Gene-Condition Fri Nov 16 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:24:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC011 1.1.3 WAS 300392 WAS-related disorders 301000 0010518 Moderate Actionability Complete Released Complete AC011 /AC011 Gene-Condition Fri Nov 16 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:24:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC011 1.1.3 WAS 300392 WAS-related disorders 313900 0010743 Moderate Actionability Complete Released Complete AC1080 /AC1080 Gene-Condition Mon Oct 07 00:00:00 UTC 2024 Tue, 25 Feb 2025 20:21:36 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1080 1.0.0 FGFR3 134934 Hypochondroplasia 146000 0007793 N/A - Insufficient evidence: expert review Complete Released Complete AC013 /AC013 Gene-Condition Thu Jan 17 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:26:35 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC013 1.1.3 ATP7A 300011 Menkes disease 309400 0010651 Moderate Actionability Complete Released Complete AC081 /AC081 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Mon, 13 Sep 2021 19:51:42 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC081 1.1.3 RET 164761 Multiple Endocrine Neoplasia Type IIB 162300 0008082 Strong Actionability Complete Released Complete AC040 /AC040 Gene-Condition Thu Oct 10 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:33:06 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC040 1.0.2 SCN5A 600163 Brugada Syndrome 601144 0011001 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 CALM1 114180 Catecholaminergic Polymorphic Ventricular Tachycardia 614916 0013966 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 CALM2 114182 Catecholaminergic Polymorphic Ventricular Tachycardia 616249 0017990 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 CALM3 114183 Catecholaminergic Polymorphic Ventricular Tachycardia 618782 0032915 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 CASQ2 114251 Catecholaminergic Polymorphic Ventricular Tachycardia 611938 0012762 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 RYR2 180902 Catecholaminergic Polymorphic Ventricular Tachycardia 604772 0011484 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 TECRL 617242 Catecholaminergic Polymorphic Ventricular Tachycardia 614021 0013529 Strong Actionability Complete Released Complete AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 TRDN 603283 Catecholaminergic Polymorphic Ventricular Tachycardia 615441 0014191 Strong Actionability Complete Released Complete AC007 /AC007 Gene-Condition Tue Nov 27 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:22:09 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC007 1.2.3 CTNS 606272 Cystinosis 219800 0016239 Moderate Actionability Complete Released Incomplete AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 GLA 300644 Fabry Disease 301500 0010526 Moderate Actionability Complete Released Complete AC067 /AC067 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 SMAD3 603109 Loeys-Dietz Syndrome 613795 0018954 Strong Actionability Complete Released Complete AC067 /AC067 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 TGFB2 190220 Loeys-Dietz Syndrome 614816 0018954 Strong Actionability Complete Released Complete AC067 /AC067 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 TGFB3 190230 Loeys-Dietz Syndrome 615582 0018954 Strong Actionability Complete Released Complete AC067 /AC067 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 TGFBR1 190181 Loeys-Dietz Syndrome 609192 0018954 Strong Actionability Complete Released Complete AC067 /AC067 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 TGFBR2 190182 Loeys-Dietz Syndrome 610168 0018954 Strong Actionability Complete Released Complete AC077 /AC077 Gene-Condition Tue Jan 15 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:50:38 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC077 1.1.5 MEN1 613733 Multiple Endocrine Neoplasia Type I 131100 0007540 Strong Actionability Complete Released Complete AC001 /AC001 Gene-Condition Mon Apr 30 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:19:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC001 1.3.4 RB1 614041 Retinoblastoma 180200 0008380 Strong Actionability Complete Released Complete AC1001 /AC1001 Gene-Condition Wed Apr 17 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:01:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1001 1.1.4 IDS 300823 Mucopolysaccharidosis Type II 309900 0010674 Assertion Pending Complete Released Complete AC061 /AC061 Gene-Condition Mon May 15 00:00:00 UTC 2023 Wed, 20 Sep 2023 21:25:29 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC061 1.0.0 FH 136850 Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) 150800 0007888 Moderate Actionability Complete Released Complete AC1002 /AC1002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:02:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1002 1.1.4 ALDH7A1 107323 Pyridoxine-dependent epilepsy 266100 0020741 Strong Actionability Complete Released Complete AC1022 /AC1022 Gene-Condition Sat Dec 26 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:20:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1022 1.0.2 CPT2 600650 Carnitine palmitoyltransferase II deficiency 255110 0015515 Moderate Actionability Complete Released Complete AC1022 /AC1022 Gene-Condition Sat Dec 26 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:20:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1022 1.0.2 CPT2 600650 Carnitine palmitoyltransferase II deficiency 600649 0015515 Moderate Actionability Complete Released Complete AC1022 /AC1022 Gene-Condition Sat Dec 26 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:20:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1022 1.0.2 CPT2 600650 Carnitine palmitoyltransferase II deficiency 608836 0015515 Moderate Actionability Complete Released Complete AC1004 /AC1004 Gene-Condition Tue Aug 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:04:14 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1004 1.0.4 PRKAR1A 188830 Carney Complex 160980 0008057 Strong Actionability Complete Released Complete AC1011 /AC1011 Gene-Condition Wed Jun 03 21:28:49 UTC 2020 Wed, 09 Feb 2022 13:10:46 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1011 1.0.2 DHCR7 602858 Smith-Lemli-Optiz Syndrome 270400 0010035 Limited Actionability Complete Released Complete AC095 /AC095 Gene-Condition Thu Sep 07 00:00:00 UTC 2023 Wed, 03 Jan 2024 23:53:11 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC095 1.0.0 HMBS 609806 Acute Intermittent Porphyria 176000 0008294 Moderate Actionability Complete Released Complete AC1012 /AC1012 Gene-Condition Tue Jul 09 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:11:42 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1012 1.0.2 SPRED1 609291 Legius syndrome 611431 0012669 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1024 /AC1024 Gene-Condition Tue Mar 09 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:22:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1024 1.0.2 SMARCA4 603254 Rhabdoid tumor predisposition syndrome 613325 0016473 Limited Actionability Complete Released Complete AC1024 /AC1024 Gene-Condition Tue Mar 09 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:22:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1024 1.0.2 SMARCB1 601607 Rhabdoid tumor predisposition syndrome 609322 0016473 Limited Actionability Complete Released Complete AC1013 /AC1013 Gene-Condition Mon Dec 16 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:12:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1013 1.0.2 IVD 607036 Isovaleric acidemia 243500 0009475 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC005 /AC005 Gene-Condition Mon Jul 09 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:21:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC005 1.2.4 SLC39A4 607059 Acrodermatitis enteropathica, zinc-deficiency type 201100 0008713 Strong Actionability Complete Released Complete AC107 /AC107 Gene-Condition Fri Aug 26 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:03:27 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC107 1.0.2 ACVRL1 601284 Hereditary Hemorrhagic Telangiectasia 600376 0010880 Strong Actionability Complete Released Complete AC107 /AC107 Gene-Condition Fri Aug 26 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:03:27 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC107 1.0.2 ENG 131195 Hereditary Hemorrhagic Telangiectasia 187300 0008535 Strong Actionability Complete Released Complete AC107 /AC107 Gene-Condition Fri Aug 26 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:03:27 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC107 1.0.2 SMAD4 600993 Hereditary Hemorrhagic Telangiectasia 175050 0008278 Strong Actionability Complete Released Complete AC1014 /AC1014 Gene-Condition Mon Jun 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:13:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1014 1.0.3 OAT 613349 Gyrate Atrophy 258870 0009796 Moderate Actionability Complete Released Complete AC1010 /AC1010 Gene-Condition Wed May 20 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:09:37 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1010 1.0.2 GALNS 612222 Mucopolysaccharidosis Type IVA 253000 0009659 Moderate Actionability Complete Released Complete AC1038 /AC1038 Gene-Condition Sat May 29 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:27:42 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1038 0.0.1 F7 613878 Factor VII deficiency 227500 0009211 Strong Actionability Complete Released Complete AC1015 /AC1015 Gene-Condition Mon Nov 02 21:15:11 UTC 2020 Wed, 09 Feb 2022 13:14:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1015 1.0.1 PHYH 602026 Refsum disease 266500 0009958 Moderate Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 CABP2 607314 Prelingual non-syndromic hearing loss and deafness 614899 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 CDH23 605516 Prelingual non-syndromic hearing loss and deafness 601386 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 CIB2 605564 Prelingual non-syndromic hearing loss and deafness 609439 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 CLDN14 605608 Prelingual non-syndromic hearing loss and deafness 614035 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 ESPN 606351 Prelingual non-syndromic hearing loss and deafness 609006 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 ESRRB 602167 Prelingual non-syndromic hearing loss and deafness 608565 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 GIPC3 608792 Prelingual non-syndromic hearing loss and deafness 601869 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 GJB2 121011 Prelingual non-syndromic hearing loss and deafness 220290 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 GRXCR1 613283 Prelingual non-syndromic hearing loss and deafness 613285 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 ILDR1 609739 Prelingual non-syndromic hearing loss and deafness 609646 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 LHFPL5 609427 Prelingual non-syndromic hearing loss and deafness 610265 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 LRTOMT 612414 Prelingual non-syndromic hearing loss and deafness 611451 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 MARVELD2 610572 Prelingual non-syndromic hearing loss and deafness 610153 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 MYO15A 602666 Prelingual non-syndromic hearing loss and deafness 600316 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 MYO3A 606808 Prelingual non-syndromic hearing loss and deafness 607101 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 MYO6 600970 Prelingual non-syndromic hearing loss and deafness 606346 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 OTOA 607038 Prelingual non-syndromic hearing loss and deafness 607039 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 OTOG 604487 Prelingual non-syndromic hearing loss and deafness 614945 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 OTOGL 614925 Prelingual non-syndromic hearing loss and deafness 614944 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 PDZD7 612971 Prelingual non-syndromic hearing loss and deafness 618003 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 PJVK 610219 Prelingual non-syndromic hearing loss and deafness 610220 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 POU3F4 300039 Prelingual non-syndromic hearing loss and deafness 304400 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 PTPRQ 603317 Prelingual non-syndromic hearing loss and deafness 613391 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 RDX 179410 Prelingual non-syndromic hearing loss and deafness 611022 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 S1PR2 605111 Prelingual non-syndromic hearing loss and deafness 610419 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 STRC 606440 Prelingual non-syndromic hearing loss and deafness 603720 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 TECTA 602574 Prelingual non-syndromic hearing loss and deafness 601543 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 TECTA 602574 Prelingual non-syndromic hearing loss and deafness 603629 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 TMC1 606706 Prelingual non-syndromic hearing loss and deafness 600974 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 TMIE 607237 Prelingual non-syndromic hearing loss and deafness 600971 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 TPRN 613354 Prelingual non-syndromic hearing loss and deafness 613307 0016297 Strong Actionability Complete Released Complete AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 TRIOBP 609761 Prelingual non-syndromic hearing loss and deafness 609823 0016297 Strong Actionability Complete Released Complete AC1020 /AC1020 Gene-Condition Mon Oct 12 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:19:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1020 1.0.2 PIK3R1 171833 SHORT syndrome 269880 0010026 Moderate Actionability Complete Released Complete AC021 /AC021 Gene-Condition Wed Mar 31 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:27:46 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC021 1.0.2 NF2 607379 Neurofibromatosis Type II 101000 0007039 Strong Actionability Complete Released Complete AC1023 /AC1023 Gene-Condition Tue Mar 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:21:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023 1.0.1 PTPN11 176876 Noonan Syndrome with Multiple Lentigines 176876 0007893 Limited Actionability Complete Released Complete AC1025 /AC1025 Gene-Condition Mon Jun 07 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:23:41 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1025 1.0.5 FOLR1 136430 Neurodegeneration due to cerebral folate transport deficiency 613068 0013110 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC089 /AC089 Gene-Condition Mon Feb 17 00:00:00 UTC 2025 Wed, 18 Jun 2025 22:29:47 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC089 1.0.0 COL5A1 120215 Ehlers-Danlos syndrome, classic type 130000 0007522 Moderate Actionability Complete Released Complete AC089 /AC089 Gene-Condition Mon Feb 17 00:00:00 UTC 2025 Wed, 18 Jun 2025 22:29:47 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC089 1.0.0 COL5A2 120190 Ehlers-Danlos syndrome, classic type 130010 0007522 Moderate Actionability Complete Released Complete AC1039 /AC1039 Gene-Condition Wed May 19 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:28:49 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1039 1.0.1 HADHA 600890 Disorders of the trifunctional protein complex 609015 0012172 Moderate Actionability Complete Released Complete AC1039 /AC1039 Gene-Condition Wed May 19 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:28:49 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1039 1.0.1 HADHA 600890 Disorders of the trifunctional protein complex 609016 0012173 Moderate Actionability Complete Released Complete AC1039 /AC1039 Gene-Condition Wed May 19 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:28:49 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1039 1.0.1 HADHB 143450 Disorders of the trifunctional protein complex 609015 0012172 Moderate Actionability Complete Released Complete AC1040 /AC1040 Gene-Condition Wed Jun 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:29:55 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1040 1.0.1 KIT 164920 Gastrointestinal stromal tumor 606764 0011719 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1040 /AC1040 Gene-Condition Wed Jun 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:29:55 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1040 1.0.1 PDGFRA 173490 Gastrointestinal stromal tumor 175510 0011719 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1041 /AC1041 Gene-Condition Mon Jun 28 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:30:54 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1041 1.0.1 BCKDHA 608348 Maple Syrup Urine Disease 248600 0009563 Strong Actionability Complete Released Complete AC1041 /AC1041 Gene-Condition Mon Jun 28 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:30:54 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1041 1.0.1 BCKDHB 248611 Maple Syrup Urine Disease 248600 0009563 Strong Actionability Complete Released Complete AC1041 /AC1041 Gene-Condition Mon Jun 28 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:30:54 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1041 1.0.1 DBT 248610 Maple Syrup Urine Disease 248600 0009563 Strong Actionability Complete Released Complete AC114 /AC114 Gene-Condition Thu Nov 18 04:23:26 UTC 2021 Wed, 09 Feb 2022 13:38:32 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC114 1.0.1 HFE 613609 Hemochromatosis, Type 1 235200 0021001 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC115 /AC115 Gene-Condition Thu Jan 02 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:39:44 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC115 1.0.2 STK11 602216 Peutz-Jeghers Syndrome 175200 0008280 Moderate Actionability Complete Released Complete AC009 /AC009 Gene-Condition Mon Nov 05 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:23:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC009 1.2.3 PHEX 300550 Hypophosphatemic rickets, X-linked dominant 307800 0010619 Assertion Pending Complete Released Complete AC1065 /AC1065 Variant-Condition Fri May 24 00:00:00 UTC 2024 Fri, 07 Feb 2025 21:38:26 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1065 1.0.0 GRCh38 (chrX:?_2782275-155611794_?)x2,GRCh38 (chrY:1-57227415)x1 Klinefelter Syndrome 0006823 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 ACTA2 102620 Familial thoracic aortic aneurysms and dissections (FTAAD) 611788 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 FBN1 134797 Familial thoracic aortic aneurysms and dissections (FTAAD) 154700 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 LOX 153455 Familial thoracic aortic aneurysms and dissections (FTAAD) 617168 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 MYH11 160745 Familial thoracic aortic aneurysms and dissections (FTAAD) 132900 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 PRKG1 176894 Familial thoracic aortic aneurysms and dissections (FTAAD) 615436 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 SMAD3 603109 Familial thoracic aortic aneurysms and dissections (FTAAD) 613795 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 TGFB2 190220 Familial thoracic aortic aneurysms and dissections (FTAAD) 614816 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 TGFBR1 190181 Familial thoracic aortic aneurysms and dissections (FTAAD) 609192 0019625 Strong Actionability Complete Released Complete AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 TGFBR2 190182 Familial thoracic aortic aneurysms and dissections (FTAAD) 610168 0019625 Strong Actionability Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 BRAF 164757 Noonan syndrome 613706 0013379 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 KRAS 190070 Noonan syndrome 609942 0012371 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 NRAS 164790 Noonan syndrome 613224 0013186 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 PTPN11 176876 Noonan syndrome 163950 0008104 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 RAF1 164760 Noonan syndrome 611553 0012690 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 RIT1 609591 Noonan syndrome 615355 0014143 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 SOS1 182530 Noonan syndrome 610733 0012547 Assertion Pending Complete Released Complete AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 SOS2 601247 Noonan syndrome 616559 0014691 Assertion Pending Complete Released Complete AC025 /AC025 Gene-Condition Mon Sep 09 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:28:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC025 1.0.2 PTEN 601728 PTEN Hamartoma Tumor Syndrome - Cowden Syndrome 158350 0008020 Moderate Actionability Complete Released Complete AC1044 /AC1044 Gene-Condition Thu Nov 04 00:00:00 UTC 2021 Wed, 20 Apr 2022 21:05:20 -0000 Hunter Jessica Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1044 1.0.1 COL4A3 120070 Alport syndrome 104200 0018965 Strong Actionability Complete Released Complete AC1044 /AC1044 Gene-Condition Thu Nov 04 00:00:00 UTC 2021 Wed, 20 Apr 2022 21:05:20 -0000 Hunter Jessica Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1044 1.0.1 COL4A3 120070 Alport syndrome 203780 0018965 Strong Actionability Complete Released Complete AC1044 /AC1044 Gene-Condition Thu Nov 04 00:00:00 UTC 2021 Wed, 20 Apr 2022 21:05:20 -0000 Hunter Jessica Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1044 1.0.1 COL4A4 120131 Alport syndrome 203780 0018965 Strong Actionability Complete Released Complete AC1044 /AC1044 Gene-Condition Thu Nov 04 00:00:00 UTC 2021 Wed, 20 Apr 2022 21:05:20 -0000 Hunter Jessica Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1044 1.0.1 COL4A5 303630 Alport syndrome 301050 0018965 Strong Actionability Complete Released Complete AC008 /AC008 Gene-Condition Thu Apr 13 00:00:00 UTC 2023 Wed, 21 Jun 2023 21:27:09 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC008 2.0.0 ALDOB 612724 Hereditary fructose intolerance 229600 0009249 Strong Actionability Complete Released Complete AC157 /AC157 Gene-Condition Mon Sep 17 00:00:00 UTC 2018 Wed, 09 Feb 2022 14:02:08 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC157 1.1.5 CP 117700 Aceruloplasminemia 604290 0011426 Strong Actionability Complete Released Complete AC1061 /AC1061 Gene-Condition Mon Sep 11 00:00:00 UTC 2023 Tue, 13 Feb 2024 19:50:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1061 1.0.0 CDKN1B 600778 Multiple endocrine neoplasia type 4 610755 0012552 Moderate Actionability Complete Released Complete AC080 /AC080 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:51:15 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC080 1.0.4 RET 164761 Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer 155240 0007958 Strong Actionability Complete Released Complete AC080 /AC080 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:51:15 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC080 1.0.4 RET 164761 Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer 171400 0008234 Strong Actionability Complete Released Complete AC1045 /AC1045 Gene-Condition Thu Mar 10 00:00:00 UTC 2022 Thu, 21 Jul 2022 22:28:00 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1045 1.0.0 RPS10 603632 Diamond-Blackfan anemia 613308 0013216 Strong Actionability Complete Released Complete AC1045 /AC1045 Gene-Condition Thu Mar 10 00:00:00 UTC 2022 Thu, 21 Jul 2022 22:28:00 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1045 1.0.0 RPS19 603474 Diamond-Blackfan anemia 105650 0007110 Strong Actionability Complete Released Complete AC1045 /AC1045 Gene-Condition Thu Mar 10 00:00:00 UTC 2022 Thu, 21 Jul 2022 22:28:00 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1045 1.0.0 RPS24 602412 Diamond-Blackfan anemia 610629 0012529 Strong Actionability Complete Released Complete AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 IDUA 252800 Mucopolysaccharidosis type I 607014 0001586 Moderate Actionability Complete Released Complete AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 IDUA 252800 Mucopolysaccharidosis type I 607015 0001586 Moderate Actionability Complete Released Complete AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 IDUA 252800 Mucopolysaccharidosis type I 607016 0001586 Moderate Actionability Complete Released Complete AC1047 /AC1047 Gene-Condition Mon May 02 00:00:00 UTC 2022 Wed, 03 Aug 2022 20:56:36 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1047 1.0.0 SLC22A5 603377 Systemic primary carnitine deficiency disease (SPCD) 212140 0008919 Strong Actionability Complete Released Complete AC086 /AC086 Gene-Condition Fri Jun 03 00:00:00 UTC 2022 Tue, 04 Oct 2022 20:25:17 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC086 1.0.0 CDKN2A 600160 Pancreatic cancer/melanoma syndrome 606719 0011713 Limited Actionability Complete Released Complete AC063 /AC063 Gene-Condition Wed Jul 15 00:00:00 UTC 2020 Tue, 29 Oct 2024 18:23:46 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063 2.0.0 PMP22 601097 Hereditary Neuropathy with Liability to Pressure Palsies 162500 0008087 Limited Actionability Complete Released Complete AC1043 /AC1043 Gene-Condition Wed Aug 18 00:00:00 UTC 2021 Thu, 20 Oct 2022 16:13:27 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1043 1.0.2 G6PD 305900 Glucose-6-phosphate dehydrogenase deficiency 305900 0005775 Moderate Actionability Complete Released Complete AC066 /AC066 Gene-Condition Mon Oct 17 00:00:00 UTC 2022 Fri, 03 Feb 2023 19:08:55 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC066 BMPR1A 601299 Juvenile polyposis syndrome 174900 0017380 Strong Actionability Complete Released Complete AC066 /AC066 Gene-Condition Mon Oct 17 00:00:00 UTC 2022 Fri, 03 Feb 2023 19:08:55 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC066 SMAD4 600993 Juvenile polyposis syndrome 174900 0017380 Strong Actionability Complete Released Complete AC066 /AC066 Gene-Condition Mon Oct 17 00:00:00 UTC 2022 Fri, 03 Feb 2023 19:08:55 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC066 SMAD4 600993 Juvenile polyposis syndrome 175050 0017380 Strong Actionability Complete Released Complete AC1009 /AC1009 Gene-Condition Thu Mar 12 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:07:47 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1009 1.0.3 ITGA2B 607759 Glanzmann thrombasthenia 273800 0100326 Strong Actionability Complete Released Complete AC1009 /AC1009 Gene-Condition Thu Mar 12 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:07:47 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1009 1.0.3 ITGB3 173470 Glanzmann thrombasthenia 273800 0100326 Strong Actionability Complete Released Complete AC028 /AC028 Gene-Condition Mon Feb 14 00:00:00 UTC 2022 Wed, 28 Jun 2023 17:13:13 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC028 1.0.1 ATP7B 606882 Wilson Disease 277900 0010200 Definitive Actionability Complete Released Complete AC1032 /AC1032 Gene-Condition Mon Mar 31 00:00:00 UTC 2025 Wed, 06 Aug 2025 23:46:04 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1032 1.0.0 LPIN1 605518 LPIN1 Deficiency 268200 0009992 Limited Actionability Complete Released Complete AC118 /AC118 Gene-Condition Mon Aug 12 00:00:00 UTC 2024 Mon, 09 Dec 2024 19:04:22 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC118 1.0.0 SLC25A13 603859 Citrin Deficiency 605814 0016602 Moderate Actionability Complete Released Complete AC048 /AC048 Gene-Condition Tue Oct 01 00:00:00 UTC 2019 Wed, 28 Jun 2023 17:13:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC048 1.0.6 APC 611731 Familial Adenomatous Polyposis 175100 0021057 Definitive Actionability Complete Released Complete AC1031 /AC1031 Gene-Condition Tue Aug 08 00:00:00 UTC 2023 Mon, 05 Feb 2024 22:08:29 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1031 1.0.0 LAMP2 309060 Danon disease 300257 0010281 Moderate Actionability Complete Released Complete AC131 /AC131 Gene-Condition Wed Aug 28 00:00:00 UTC 2019 Wed, 14 Jan 2026 19:40:38 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 KCNH2 152427 Long QT Syndrome, types 1, 2, and 3 613688 0013367 Strong Actionability Complete Released Complete AC131 /AC131 Gene-Condition Wed Aug 28 00:00:00 UTC 2019 Wed, 14 Jan 2026 19:40:38 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 KCNQ1 607542 Long QT Syndrome, types 1, 2, and 3 192500 0100316 Strong Actionability Complete Released Complete AC131 /AC131 Gene-Condition Wed Aug 28 00:00:00 UTC 2019 Wed, 14 Jan 2026 19:40:38 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 SCN5A 600163 Long QT Syndrome, types 1, 2, and 3 603830 0011377 Strong Actionability Complete Released Complete AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 BRCA2 600185 Fanconi Anemia 605724 0011584 Moderate Actionability Complete Released Complete AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 BRIP1 605882 Fanconi Anemia 609054 0012187 Moderate Actionability Complete Released Complete AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 FANCA 607139 Fanconi Anemia 227650 0009215 Moderate Actionability Complete Released Complete AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 FANCC 613899 Fanconi Anemia 613899 0009213 Moderate Actionability Complete Released Complete AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 FANCG 602956 Fanconi Anemia 614082 0013565 Moderate Actionability Complete Released Complete AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 PALB2 610355 Fanconi Anemia 610832 0012565 Moderate Actionability Complete Released Complete AC098 /AC098 Gene-Condition Tue May 31 00:00:00 UTC 2022 Wed, 28 Jun 2023 17:14:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC098 1.0.1 BTD 609019 Biotinidase Deficiency 253260 0009665 Definitive Actionability Complete Released Complete AC087 /AC087 Gene-Condition Mon Nov 07 00:00:00 UTC 2022 Tue, 07 Mar 2023 17:37:31 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC087 1.0.0 PTCH1 601309 Basal Cell Nevus Syndrome (BCNS) 109400 0007187 Moderate Actionability Complete Released Complete AC110 /AC110 Gene-Condition Mon Mar 27 00:00:00 UTC 2023 Wed, 28 Jun 2023 17:15:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC110 1.0.1 PAH 612349 Phenylketonuria (PKU) 261600 0009861 Definitive Actionability Complete Released Complete AC090 /AC090 Gene-Condition Fri May 12 00:00:00 UTC 2023 Fri, 28 Jul 2023 17:46:48 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC090 1.0.0 GAA 606800 Glycogen Storage Disease 2 232300 0009290 Strong Actionability Complete Released Complete AC010 /AC010 Gene-Condition Wed Jul 11 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:24:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC010 1.2.3 FGF23 605380 Hypophosphatemic rickets, autosomal dominant 193100 0008660 Limited Actionability Complete Released Complete AC097 /AC097 Gene-Condition Fri Jun 23 00:00:00 UTC 2023 Fri, 06 Oct 2023 17:08:00 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC097 1.0.0 CBS 613381 Cystathionine Beta-Synthase Deficiency 236200 0009352 Strong Actionability Complete Released Complete AC1054 /AC1054 Gene-Condition Mon Sep 12 16:18:07 UTC 2022 Tue, 29 Oct 2024 01:06:10 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1054 1.0.1 BARD1 601593 Hereditary breast carcinoma 114480 0700267 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC091 /AC091 Gene-Condition Wed Jun 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:56:42 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC091 1.0.1 MET 164860 Familial papillary renal cell carcinoma 1 605074 0017884 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1019 /AC1019 Gene-Condition Tue Jan 12 00:00:00 UTC 2021 Thu, 21 Apr 2022 16:42:17 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1019 1.0.3 SLC26A4 605646 Pendred syndrome 274600 0010134 Moderate Actionability Complete Released Complete AC112 /AC112 Gene-Condition Tue Nov 16 00:00:00 UTC 2021 Wed, 28 Jun 2023 17:15:52 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC112 1.0.1 OTC 300461 Ornithine Transcarbamylase Deficiency 311250 0010703 Definitive Actionability Complete Released Complete AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 DSC2 125645 Arrhythmogenic Right Ventricular Dysplasia 610476 0012506 Strong Actionability Complete Released Complete AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 DSG2 125671 Arrhythmogenic Right Ventricular Dysplasia 610193 0012434 Strong Actionability Complete Released Complete AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 DSP 125647 Arrhythmogenic Right Ventricular Dysplasia 607450 0011831 Strong Actionability Complete Released Complete AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 JUP 173325 Arrhythmogenic Right Ventricular Dysplasia 611528 0012684 Strong Actionability Complete Released Complete AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 PKP2 602861 Arrhythmogenic Right Ventricular Dysplasia 609040 0012180 Strong Actionability Complete Released Complete AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 TMEM43 612048 Arrhythmogenic Right Ventricular Dysplasia 604400 0011459 Strong Actionability Complete Released Complete AC1052 /AC1052 Gene-Condition Mon Feb 12 00:00:00 UTC 2024 Thu, 06 Jun 2024 21:36:15 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1052 1.0.0 SLC25A15 603861 Ornithine translocase deficiency 238970 0009393 Moderate Actionability Complete Released Complete AC128 /AC128 Gene-Condition Wed Jan 15 00:00:00 UTC 2025 Fri, 09 May 2025 15:56:14 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC128 1.0.0 GCH1 600225 GCH-1 associated dopa-responsive dystonia 128230 0007495 Strong Actionability Complete Released Complete AC041 /AC041 Gene-Condition Wed Mar 22 00:00:00 UTC 2023 Mon, 08 Jan 2024 23:26:41 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC041 1.0.1 FLCN 607273 Birt-Hogg-Dubé syndrome 135150 0800445 Limited Actionability Complete Released Complete AC012 /AC012 Gene-Condition Mon Feb 25 00:00:00 UTC 2019 Wed, 24 Sep 2025 21:01:20 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC012 1.3.0 RPE65 180069 Biallelic RPE65 Mutation-Associated Retinal Dystrophy 204100 0100368 Moderate Actionability Complete Released Complete AC012 /AC012 Gene-Condition Mon Feb 25 00:00:00 UTC 2019 Wed, 24 Sep 2025 21:01:20 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC012 1.3.0 RPE65 180069 Biallelic RPE65 Mutation-Associated Retinal Dystrophy 613794 0100368 Moderate Actionability Complete Released Complete AC1046 /AC1046 Gene-Condition Wed Mar 16 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:14 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1046 1.0.2 CPS1 608307 Carbamoylphosphate synthetase 1 (CPS1) deficiency 237300 0009376 Strong Actionability Complete Released Complete AC065 /AC065 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:18 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC065 1.0.3 APOB 107730 Homozygous Familial Hypercholesterolemia 144010 0007751 Strong Actionability Complete Released Complete AC065 /AC065 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:18 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC065 1.0.3 LDLR 606945 Homozygous Familial Hypercholesterolemia 143890 0007750 Strong Actionability Complete Released Complete AC065 /AC065 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:18 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC065 1.0.3 PCSK9 607786 Homozygous Familial Hypercholesterolemia 603776 0011369 Strong Actionability Complete Released Complete AC1026 /AC1026 Gene-Condition Tue Jun 01 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:24:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1026 1.0.3 PPP1CB 600590 Noonan syndrome-like with loose anagen hair 617506 0011899 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1026 /AC1026 Gene-Condition Tue Jun 01 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:24:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1026 1.0.3 SHOC2 602775 Noonan syndrome-like with loose anagen hair 607721 0011899 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC027 /AC027 Gene-Condition Tue Jan 04 00:00:00 UTC 2022 Thu, 17 Mar 2022 19:30:12 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC027 1.0.0 VHL 608537 Von Hippel-Lindau Syndrome 193300 0008667 Moderate Actionability Complete Released Complete AC068 /AC068 Gene-Condition Fri Mar 26 00:00:00 UTC 2021 Sun, 24 Mar 2024 15:00:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC068 1.0.3 TP53 191170 Li-Fraumeni Syndrome 151623 0018875 Strong Actionability Complete Released Complete AC154 /AC154 Gene-Condition Wed Mar 04 00:00:00 UTC 2026 Fri, 06 Mar 2026 00:35:59 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC154 1.0.0 GREM1 603054 Hereditary mixed polyposis syndrome 1 601228 0042486 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1036 /AC1036 Gene-Condition Thu Mar 21 00:00:00 UTC 2024 Mon, 12 Aug 2024 17:28:28 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1036 1.0.0 SLC2A1 138140 GLUT1 deficiency syndrome 606777 0000188 Strong Actionability Complete Released Complete AC1055 /AC1055 Gene-Condition Wed Aug 24 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1055 1.0.2 MLH1 120436 Mismatch repair cancer syndrome (MMRCS) 276300 0031219 Strong Actionability Complete Released Complete AC1055 /AC1055 Gene-Condition Wed Aug 24 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1055 1.0.2 MSH2 609309 Mismatch repair cancer syndrome (MMRCS) 619096 0031219 Strong Actionability Complete Released Complete AC1055 /AC1055 Gene-Condition Wed Aug 24 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1055 1.0.2 MSH6 600678 Mismatch repair cancer syndrome (MMRCS) 619097 0031219 Strong Actionability Complete Released Complete AC1055 /AC1055 Gene-Condition Wed Aug 24 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1055 1.0.2 PMS2 600259 Mismatch repair cancer syndrome (MMRCS) 619101 0031219 Strong Actionability Complete Released Complete AC026 /AC026 Gene-Condition Fri Dec 17 00:00:00 UTC 2021 Tue, 21 Feb 2023 12:49:18 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC026 1.0.1 TSC1 605284 Tuberous Sclerosis Complex (TSC) 191100 0001734 Strong Actionability Complete Released Complete AC026 /AC026 Gene-Condition Fri Dec 17 00:00:00 UTC 2021 Tue, 21 Feb 2023 12:49:18 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC026 1.0.1 TSC2 191092 Tuberous Sclerosis Complex (TSC) 613254 0001734 Strong Actionability Complete Released Complete AC145 /AC145 Gene-Condition Thu Oct 24 00:00:00 UTC 2019 Sat, 06 Jan 2024 00:31:55 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC145 1.0.4 TTR 176300 Hereditary transthyretin-related amyloidosis 105210 0007100 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1051 /AC1051 Gene-Condition Tue Dec 17 00:00:00 UTC 2024 Tue, 22 Apr 2025 13:20:41 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1051 1.0.0 ARG1 608313 Hyperargininemia 207800 0008814 Limited Actionability Complete Released Complete AC1037 /AC1037 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Wed, 05 Jun 2024 20:58:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037 1.0.0 GAMT 601240 Cerebral creatine deficiency syndromes 612736 0000456 Moderate Actionability Complete Released Complete AC1037 /AC1037 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Wed, 05 Jun 2024 20:58:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037 1.0.0 GATM 602360 Cerebral creatine deficiency syndromes 612718 0000456 Moderate Actionability Complete Released Complete AC1037 /AC1037 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Wed, 05 Jun 2024 20:58:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037 1.0.0 SLC6A8 300036 Cerebral creatine deficiency syndromes 300352 0000456 Limited Actionability Complete Released Complete AC117 /AC117 Gene-Condition Fri Dec 01 00:00:00 UTC 2023 Mon, 15 Apr 2024 20:41:31 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC117 1.0.0 ABCD1 300371 Adrenoleukodystrophy 300100 0018544 Strong Actionability Complete Released Complete AC003 /AC003 Gene-Condition Thu May 17 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:21:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003 1.2.4 WT1 607102 Wilms tumor 194070 0008679 Moderate Actionability Complete Released Complete AC119 /AC119 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Tue, 30 Apr 2024 19:03:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119 1.0.0 CDC73 607393 CDC73-Related Conditions 145000 0007767 No Assertion: scoring group absence Complete Released Complete AC119 /AC119 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Tue, 30 Apr 2024 19:03:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119 1.0.0 CDC73 607393 CDC73-Related Conditions 145001 0007768 Moderate Actionability Complete Released Complete AC119 /AC119 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Tue, 30 Apr 2024 19:03:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119 1.0.0 CDC73 607393 CDC73-Related Conditions 608266 0012004 No Assertion: scoring group absence Complete Released Complete AC116 /AC116 Gene-Condition Tue Jul 29 00:00:00 UTC 2025 Mon, 17 Nov 2025 23:37:50 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC116 1.0.0 CCM2 607929 Cerebral cavernous malformations 1, 2, and 3 603284 0011304 Limited Actionability Complete Released Complete AC116 /AC116 Gene-Condition Tue Jul 29 00:00:00 UTC 2025 Mon, 17 Nov 2025 23:37:50 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC116 1.0.0 KRIT1 604214 Cerebral cavernous malformations 1, 2, and 3 116860 0020724 Limited Actionability Complete Released Complete AC116 /AC116 Gene-Condition Tue Jul 29 00:00:00 UTC 2025 Mon, 17 Nov 2025 23:37:50 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC116 1.0.0 PDCD10 609118 Cerebral cavernous malformations 1, 2, and 3 603258 0011305 Limited Actionability Complete Released Complete AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 EGR2 129010 Charcot - Marie - Tooth Disease, Type 1 607678 0019011 Limited Actionability Complete Released Complete AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 LITAF 603795 Charcot - Marie - Tooth Disease, Type 1 601098 0019011 Limited Actionability Complete Released Complete AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 MPZ 159440 Charcot - Marie - Tooth Disease, Type 1 118200 0019011 Limited Actionability Complete Released Complete AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 NEFL 162280 Charcot - Marie - Tooth Disease, Type 1 607734 0019011 Limited Actionability Complete Released Complete AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 PMP22 601097 Charcot - Marie - Tooth Disease, Type 1 118220 0019011 Limited Actionability Complete Released Complete AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 PMP22 601097 Charcot - Marie - Tooth Disease, Type 1 118300 0019011 Limited Actionability Complete Released Complete AC1042 /AC1042 Gene-Condition Thu Sep 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:32:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1042 1.0.1 RUNX1 151385 Hereditary thrombocytopenia and hematological cancer predisposition syndrome 601399 0100083 Moderate Actionability Complete Released Complete AC132 /AC132 Gene-Condition Wed Sep 02 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:49:33 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC132 1.0.1 COL3A1 120180 Vascular Ehlers-Danlos Syndrome 130050 0017314 Moderate Actionability Complete Released Complete AC1084 /AC1084 Gene-Condition Thu Jul 10 00:00:00 UTC 2025 Thu, 18 Dec 2025 19:20:12 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1084 1.0.0 CYP27A1 606530 Cerebrotendinous xanthomatosis 213700 0008948 Strong Actionability Complete Released Complete AC1056 /AC1056 Gene-Condition Tue Jan 03 00:00:00 UTC 2023 Thu, 27 Apr 2023 19:22:52 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1056 1.0.0 NAGS 608300 N-Acetyl Glutamate Synthase Deficiency (NAGSD) 237310 0009377 Strong Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 CCDC103 614677 Primary Ciliary Dyskinesia (PCD) 614677 0013854 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 CCDC39 613798 Primary Ciliary Dyskinesia (PCD) 613807 0013434 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 CCDC40 613799 Primary Ciliary Dyskinesia (PCD) 613808 0013435 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 CCNO 607752 Primary Ciliary Dyskinesia (PCD) 615872 0014378 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 CFAP300 618058 Primary Ciliary Dyskinesia (PCD) 618063 0054843 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 DNAAF3 614566 Primary Ciliary Dyskinesia (PCD) 606763 0011718 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 DNAH11 603339 Primary Ciliary Dyskinesia (PCD) 611884 0012748 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 DNAH5 603335 Primary Ciliary Dyskinesia (PCD) 603335 0012085 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 DNAI1 604366 Primary Ciliary Dyskinesia (PCD) 244400 0009484 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 DNAI2 605483 Primary Ciliary Dyskinesia (PCD) 612444 0012906 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 FOXJ1 602291 Primary Ciliary Dyskinesia (PCD) 618699 0032874 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 HYDIN 610812 Primary Ciliary Dyskinesia (PCD) 608647 0012088 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 MCIDAS 614086 Primary Ciliary Dyskinesia (PCD) 614086 0032872 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 ODAD1 615038 Primary Ciliary Dyskinesia (PCD) 615067 0014030 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 ODAD2 615408 Primary Ciliary Dyskinesia (PCD) 615451 0014193 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 ODAD4 617095 Primary Ciliary Dyskinesia (PCD) 617092 0014910 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 RSPH1 609314 Primary Ciliary Dyskinesia (PCD) 615481 0014202 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 RSPH4A 612647 Primary Ciliary Dyskinesia (PCD) 612649 0012978 Moderate Actionability Complete Released Complete AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007 1.0.0 SPAG1 603395 Primary Ciliary Dyskinesia (PCD) 615505 0014216 Moderate Actionability Complete Released Complete AC1057 /AC1057 Gene-Condition Tue Aug 13 00:00:00 UTC 2024 Thu, 21 Nov 2024 13:36:44 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057 1.0.0 ALK 105590 Susceptibility to neuroblastoma-3 613014 0013083 Limited Actionability Complete Released Complete AC099 /AC099 Gene-Condition Mon May 15 00:00:00 UTC 2023 Fri, 06 Dec 2024 00:17:26 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC099 1.0.1 NOTCH3 600276 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 125310 0000914 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC136 /AC136 Gene-Condition Wed Jun 04 21:11:38 UTC 2025 Wed, 04 Jun 2025 21:14:53 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC136 1.0.0 BRIP1 605882 Ovarian cancer 114480 0016248 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC136 /AC136 Gene-Condition Wed Jun 04 21:11:38 UTC 2025 Wed, 04 Jun 2025 21:14:53 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC136 1.0.0 RAD51C 602774 Ovarian cancer 613399 0016248 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC136 /AC136 Gene-Condition Wed Jun 04 21:11:38 UTC 2025 Wed, 04 Jun 2025 21:14:53 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC136 1.0.0 RAD51D 602954 Ovarian cancer 614291 0016248 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1081 /AC1081 Gene-Condition Fri Nov 08 00:00:00 UTC 2024 Fri, 23 May 2025 17:43:12 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1081 1.0.0 HBB 141900 Sickle Cell Anemia 603903 0011382 Definitive Actionability Complete Released Complete AC069 /AC069 Gene-Condition Wed Sep 15 22:19:57 UTC 2021 Wed, 09 Feb 2022 12:46:25 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069 1.0.1 EPCAM 185535 Lynch Syndrome 613244 0013196 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC069 /AC069 Gene-Condition Wed Sep 15 22:19:57 UTC 2021 Wed, 09 Feb 2022 12:46:25 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069 1.0.1 MLH1 120436 Lynch Syndrome 609310 0012249 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC069 /AC069 Gene-Condition Wed Sep 15 22:19:57 UTC 2021 Wed, 09 Feb 2022 12:46:25 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069 1.0.1 MSH2 609309 Lynch Syndrome 120435 0007356 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC069 /AC069 Gene-Condition Wed Sep 15 22:19:57 UTC 2021 Wed, 09 Feb 2022 12:46:25 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069 1.0.1 MSH6 600678 Lynch Syndrome 614350 0013710 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC069 /AC069 Gene-Condition Wed Sep 15 22:19:57 UTC 2021 Wed, 09 Feb 2022 12:46:25 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069 1.0.1 PMS2 600259 Lynch Syndrome 614337 0013699 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1028 /AC1028 Gene-Condition Tue May 04 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:26:30 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1028 1.0.1 ASL 608310 Argininosuccinate Lyase Deficiency 207900 0008815 Moderate Actionability Complete Released Complete AC093 /AC093 Gene-Condition Mon Aug 26 00:00:00 UTC 2024 Fri, 20 Dec 2024 19:52:26 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC093 1.0.0 SERPINA1 107400 Alpha-1 Antitrypsin Deficiency 613490 0013282 Moderate Actionability Complete Released Complete AC1034 /AC1034 Gene-Condition Wed May 21 00:00:00 UTC 2025 Wed, 03 Sep 2025 22:14:02 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1034 1.0.0 SCN1A 182389 Dravet syndrome 604403 0100135 Moderate Actionability Complete Released Complete AC1034 /AC1034 Gene-Condition Wed May 21 00:00:00 UTC 2025 Wed, 03 Sep 2025 22:14:02 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1034 1.0.0 SCN1A 182389 Dravet syndrome 607208 0100135 Moderate Actionability Complete Released Complete AC1034 /AC1034 Gene-Condition Wed May 21 00:00:00 UTC 2025 Wed, 03 Sep 2025 22:14:02 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1034 1.0.0 SCN1A 182389 Dravet syndrome 619317 0100135 Moderate Actionability Complete Released Complete AC108 /AC108 Gene-Condition Wed Sep 15 22:14:33 UTC 2021 Fri, 19 Sep 2025 19:31:21 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC108 1.1.0 PALB2 610355 PALB2-related cancers 620442 0957530 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC103 /AC103 Gene-Condition Tue Jun 04 00:00:00 UTC 2019 Wed, 20 Dec 2023 18:09:33 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC103 1.0.1 CDH1 192090 Hereditary Diffuse Gastric Cancer 137215 0100488 Limited Actionability Complete Released Complete AC004 /AC004 Gene-Condition Thu Jan 09 00:00:00 UTC 2025 Wed, 21 May 2025 19:07:23 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC004 2.0.0 ALPL 171760 Hypophosphatasia 146300 0018570 Moderate Actionability Complete Released Complete AC004 /AC004 Gene-Condition Thu Jan 09 00:00:00 UTC 2025 Wed, 21 May 2025 19:07:23 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC004 2.0.0 ALPL 171760 Hypophosphatasia 241500 0018570 Moderate Actionability Complete Released Complete AC004 /AC004 Gene-Condition Thu Jan 09 00:00:00 UTC 2025 Wed, 21 May 2025 19:07:23 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC004 2.0.0 ALPL 171760 Hypophosphatasia 241510 0018570 Moderate Actionability Complete Released Complete AC070 /AC070 Gene-Condition Mon Feb 10 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:47:32 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC070 1.0.2 MUTYH 604933 MUTYH-Associated Polyposis 608456 0012041 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1017 /AC1017 Gene-Condition Mon Oct 26 00:00:00 UTC 2020 Sun, 24 Mar 2024 15:01:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1017 1.0.4 ASS1 603470 Citrullinemia 215700 0008988 Strong Actionability Complete Released Complete AC1005 /AC1005 Gene-Condition Thu Jan 30 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:05:11 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1005 1.0.1 FGFR3 134934 Achondroplasia 100800 0007037 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC127 /AC127 Gene-Condition Wed Jun 04 20:52:15 UTC 2025 Wed, 04 Jun 2025 20:57:26 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC127 1.0.0 ATM 607585 Breast Cancer 114480 0016419 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC127 /AC127 Gene-Condition Wed Jun 04 20:52:15 UTC 2025 Wed, 04 Jun 2025 20:57:26 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC127 1.0.0 CHEK2 604373 Breast Cancer 114480 0016419 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 GBA 606463 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 168600 0005180 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 LRRK2 609007 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 607060 0011764 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 PARK2 602544 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 600116 0010820 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 PARK7 602533 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 606324 0011658 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 PINK1 608309 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 605909 0011613 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 SNCA 163890 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 168601 0008200 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 VPS13C 608879 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 616840 0014796 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027 1.0.3 VPS35 601501 Early-Onset and Late-Onset Adult Monogenic Parkinson Disease 614203 0013625 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC106 /AC106 Gene-Condition Wed Jun 04 21:17:50 UTC 2025 Wed, 04 Jun 2025 21:28:24 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC106 1.0.0 F5 612309 Factor V Leiden, Heterozygous 188055 0008560 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 MCEE 608419 Methylmalonic Acidemia 251120 0009615 Assertion Pending Complete Released Complete AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 MMAA 607481 Methylmalonic Acidemia 251100 0009613 Assertion Pending Complete Released Complete AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 MMAB 607568 Methylmalonic Acidemia 251110 0009614 Assertion Pending Complete Released Complete AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 MMADHC 611935 Methylmalonic Acidemia 277410 0010185 Assertion Pending Complete Released Complete AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 MUT 609058 Methylmalonic Acidemia 251000 0009612 Assertion Pending Complete Released Complete AC104 /AC104 Gene-Condition Thu Dec 08 00:00:00 UTC 2022 Fri, 22 Dec 2023 01:03:05 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104 1.0.2 GBA 606463 Gaucher Disease 230800 0018150 No Assertion: scoring group absence Complete Released Complete AC104 /AC104 Gene-Condition Thu Dec 08 00:00:00 UTC 2022 Fri, 22 Dec 2023 01:03:05 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104 1.0.2 GBA 606463 Gaucher Disease 230900 0018150 No Assertion: scoring group absence Complete Released Complete AC104 /AC104 Gene-Condition Thu Dec 08 00:00:00 UTC 2022 Fri, 22 Dec 2023 01:03:05 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104 1.0.2 GBA 606463 Gaucher Disease 231000 0018150 No Assertion: scoring group absence Complete Released Complete AC104 /AC104 Gene-Condition Thu Dec 08 00:00:00 UTC 2022 Fri, 22 Dec 2023 01:03:05 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104 1.0.2 GBA 606463 Gaucher Disease 231005 0018150 No Assertion: scoring group absence Complete Released Complete AC104 /AC104 Gene-Condition Thu Dec 08 00:00:00 UTC 2022 Fri, 22 Dec 2023 01:03:05 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104 1.0.2 GBA 606463 Gaucher Disease 608013 0018150 No Assertion: scoring group absence Complete Released Complete AC1048 /AC1048 Gene-Condition Mon Feb 05 00:00:00 UTC 2024 Wed, 07 Aug 2024 16:49:18 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1048 1.0.0 HNF1B 189907 Renal cysts and diabetes syndrome (RCAD) 137920 0007669 Moderate Actionability Complete Released Complete AC002 /AC002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Tue, 23 Jul 2024 19:18:39 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC002 1.1.5 DICER1 606241 DICER1-Related Disorders 138800 0100216 Moderate Actionability Complete Released Complete AC002 /AC002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Tue, 23 Jul 2024 19:18:39 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC002 1.1.5 DICER1 606241 DICER1-Related Disorders 180295 0100216 Moderate Actionability Complete Released Complete AC002 /AC002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Tue, 23 Jul 2024 19:18:39 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC002 1.1.5 DICER1 606241 DICER1-Related Disorders 601200 0100216 Moderate Actionability Complete Released Complete AC057 /AC057 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:08 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC057 1.0.3 APOB 107730 Heterozygous Familial Hypercholesterolemia 144010 0007751 Strong Actionability Complete Released Complete AC057 /AC057 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:08 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC057 1.0.3 LDLR 606945 Heterozygous Familial Hypercholesterolemia 143890 0007750 Strong Actionability Complete Released Complete AC057 /AC057 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:08 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC057 1.0.3 PCSK9 607786 Heterozygous Familial Hypercholesterolemia 603776 0011369 Strong Actionability Complete Released Complete AC1029 /AC1029 Gene-Condition Mon Nov 18 00:00:00 UTC 2024 Tue, 25 Feb 2025 19:21:01 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1029 1.0.0 AMT 238310 Glycine encephalopathy 620398 0011612 Limited Actionability Complete Released Complete AC1029 /AC1029 Gene-Condition Mon Nov 18 00:00:00 UTC 2024 Tue, 25 Feb 2025 19:21:01 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1029 1.0.0 GLDC 238300 Glycine encephalopathy 605899 0011612 Limited Actionability Complete Released Complete AC126 /AC126 Gene-Condition Sat Mar 08 00:00:00 UTC 2025 Wed, 13 Aug 2025 22:58:40 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC126 1.0.0 ACADVL 609575 Very Long Chain Actyl-CoA Dehydrogenase Deficiency (VLCAD) 201475 0008723 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 BAG3 603883 Dilated cardiomyopathy 613881 0013479 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 DES 125660 Dilated cardiomyopathy 604765 0011482 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 DMD 300377 Dilated cardiomyopathy 302045 0010542 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 DSP 125647 Dilated cardiomyopathy 615821 0014355 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 FLNC 102565 Dilated cardiomyopathy 617047 0014883 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 LMNA 150330 Dilated cardiomyopathy 115200 0007269 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 MYH7 160760 Dilated cardiomyopathy 613426 0013262 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 PLN 172405 Dilated cardiomyopathy 609909 0012362 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 RBM20 613171 Dilated cardiomyopathy 613172 0013168 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 SCN5A 600163 Dilated cardiomyopathy 601154 0011003 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 TNNC1 191040 Dilated cardiomyopathy 611879 0012745 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 TNNT2 191045 Dilated cardiomyopathy 601494 0011095 Moderate Actionability Complete Released Complete AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 TTN 188840 Dilated cardiomyopathy 604145 0011400 Moderate Actionability Complete Released Complete AC1060 /AC1060 Gene-Condition Wed Mar 04 00:00:00 UTC 2026 Fri, 06 Mar 2026 00:31:20 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1060 1.0.0 CDK4 123829 Cutaneous malignant melanoma-3 (CMM3) 609048 0012183 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC1016 /AC1016 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Mon, 16 Oct 2023 20:13:06 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1016 1.0.3 ACADM 607008 Medium-chain acyl coenzyme A dehydrogenase deficiency 201450 0008721 Strong Actionability Complete Released Complete AC075 /AC075 Gene-Condition Thu Dec 22 00:00:00 UTC 2022 Wed, 14 Jan 2026 00:01:43 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC075 1.0.1 HNF1A 142410 Maturity Onset Diabetes of the Young Type I & Type III 600496 0010894 Strong Actionability Complete Released Complete AC075 /AC075 Gene-Condition Thu Dec 22 00:00:00 UTC 2022 Wed, 14 Jan 2026 00:01:43 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC075 1.0.1 HNF4A 600281 Maturity Onset Diabetes of the Young Type I & Type III 125850 0007452 Strong Actionability Complete Released Complete AC133 /AC133 Gene-Condition Wed Sep 15 22:13:45 UTC 2021 Thu, 14 Aug 2025 23:31:35 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC133 1.0.3 BRCA1 113705 Hereditary Breast and Ovarian Cancer 604370 0011450 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC133 /AC133 Gene-Condition Wed Sep 15 22:13:45 UTC 2021 Thu, 14 Aug 2025 23:31:35 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC133 1.0.3 BRCA2 600185 Hereditary Breast and Ovarian Cancer 612555 0012933 N/A - Insufficient evidence: early rule-out Incomplete Released Failed AC076 /AC076 Gene-Condition Tue Jan 12 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:49:28 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC076 1.0.1 CACNA1S 114208 Malignant Hyperthermia Susceptibility 601887 0018493 Strong Actionability Complete Released Complete AC076 /AC076 Gene-Condition Tue Jan 12 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:49:28 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC076 1.0.1 RYR1 180901 Malignant Hyperthermia Susceptibility 145600 0018493 Strong Actionability Complete Released Complete