{ "@context": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067", "id": "CG-AC:AC067", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "26836", "producedAtUTC": "Thu, 10 Sep 2026 19:39:02 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/co", "id": "CG-AC:AC067/co", "type": "GeneticCondition", "label": "Loeys-Dietz Syndrome", "description": "Aortic aneurysm syndrome with a triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate." }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ou/Clinically%20Significant%20Aortic%20Aneurysm", "id": "CG-AC:AC067/ou/Clinically Significant Aortic Aneurysm", "type": "Outcome", "label": "Clinically Significant Aortic Aneurysm" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ou/Aortic%20Dilation%20Progression", "id": "CG-AC:AC067/ou/Aortic Dilation Progression", "type": "Outcome", "label": "Aortic Dilation Progression" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/intv/Aortic%20surveillance", "id": "CG-AC:AC067/intv/Aortic surveillance", "type": "Intervention", "label": "Aortic surveillance" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/intv/Pharmacotherapy", "id": "CG-AC:AC067/intv/Pharmacotherapy", "type": "Intervention", "label": "Pharmacotherapy" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/cap", "id": "CG-AC:AC067/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Tue, 24 Aug 2021 00:00:00 -0000", "releaseNum": "3.0.4", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/en/nh", "id": "CG-AC:AC067/en/nh", "type": "EvidenceNarrative", "narrative": "Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms which are the major source of morbidity and mortality. Aortic growth can be faster than 10mm per year. Aortic dissection has been observed in early childhood, and the mean age of death is 26 years. Other life-threatening manifestations include spontaneous rupture of the spleen, bowel, and uterine rupture during pregnancy. There is a high incidence of pregnancy-related complications, including aortic dissection/rupture and uterine rupture during pregnancy or delivery and aortic dissection/rupture in the immediate postpartum period. No ethnic/racial or gender difference has been reported.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF000324", "CG-AC:RF000047", "CG-AC:RF000698", "CG-AC:RF002534" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/en/cf", "id": "CG-AC:AC067/en/cf", "type": "EvidenceNarrative", "narrative": "LDS represents a wide phenotypic continuum in which individuals may have various combinations of clinical features. LDS is characterized by vascular (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections; arterial tortuosity) and skeletal (pectus deformity, scoliosis, joint laxity or contracture, arachnodactyly, club foot, cervical spine malformation and/or instability, osteoarthritis) manifestations. Patients may also display craniofacial (widely spaced eyes, bifid uvula, cleft palate, craniosynostosis) and cutaneous (velvety and translucent skin, easy bruising, dystrophic scars) manifestations. Individuals with LDS show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Ocular manifestations include myopia, refractive errors, strabismus, and blue or dusky sclerae. Various clinical presentations have in the past been labeled as LDS type I (associated with TGFBR1; craniofacial features present), LDS type II (associated with TGFBR2; minimal to absent craniofacial features), LDS type III (associated with SMAD3; presence of osteoarthritis); LDS type IV (associated with TGFB2), and LDS type V (associated with TGFB3). These subtype designations provide a general indication of the spectrum of disease severity, from most to least severe: LDS1 = LDS2 > LDS3 > LDS4 > LDS5.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF000100", "CG-AC:RF000324", "CG-AC:RF000047", "CG-AC:RF000049", "CG-AC:RF000698", "CG-AC:RF002527", "CG-AC:RF002541", "CG-AC:RF002534" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/en/potgd", "id": "CG-AC:AC067/en/potgd", "type": "EvidenceNarrative", "narrative": "The prevalence of Loeys-Dietz syndrome (LDS) is unknown.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF000100", "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/en/ACMI2584", "id": "CG-AC:AC067/en/ACMI2584", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance" } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ten/NOI2718", "id": "CG-AC:AC067/ten/NOI2718", "type": "TieredEvidenceNarrative", "narrative": "The identified interventions involve invasive prophylactic surgery, which is likely associated with high risk and morbidity.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ten/PGM2657", "id": "CG-AC:AC067/ten/PGM2657", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Information on the prevalence if genetic variants associated with LDS was unavailable.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ten/ACPE3765", "id": "CG-AC:AC067/ten/ACPE3765", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "While non-penetrance in LDS has been documented, 98% of individuals have aortic root aneurysms that lead to aortic dissection and 53% develop aneurysms of other vessels.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000100", "CG-AC:RF000324", "CG-AC:RF000047" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ten/EN2712", "id": "CG-AC:AC067/ten/EN2712", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ten/RR2554", "id": "CG-AC:AC067/ten/RR2554", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Information on relative risk was unavailable.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/ten/CDEC2708", "id": "CG-AC:AC067/ten/CDEC2708", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "The major source of morbidity and early mortality in LDS is related to cardiovascular outcomes, such as predisposition for aortic dissection and rupture. These cardiovascular outcomes are unlikely to be detected through routine clinical care.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF000324" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/REC2782", "id": "CG-AC:AC067/tr/REC2782", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "In addition, a meta-analysis of six randomized clinical trials among children and adults with MFS indicated that losartan, an angiotensin II receptor antagonist, significantly decreased the rate of aortic dilation compared to no losartan treatment (standardized mean difference: -0.13; 95% CI: -0.25 to 0.00; p=0.04). However, improvements in mortality, cardiovascular surgery, or aortic dissection or rupture were assessed but not observed. Follow-up time in these studies ranged from 35 months to 3.5 years, which may have limited the ability to assess these outcomes.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF002531" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/REC2783", "id": "CG-AC:AC067/tr/REC2783", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "Though no evidence for effectiveness of these medications is available for LDS, a meta-analysis of five cohort studies among children and adolescents with MFS indicated that beta-blocker treatment decreased the rate of aortic dilation compared to no treatment (standardized mean difference: -1.30; 95% CI: -2.11 to -0.49; p=0.002). A randomized trial of 70 patients with MFS aged 12-50 years showed that beta-blocker vs. no treatment slowed the rate of aortic dissection as measured by the aortic ratio, calculated by dividing the measured aortic diameter by the diameter predicted by the participant’s height, weight, and age (mean slope of the aortic ratio plotted against time: 0.084 vs. 0.023, respectively). However, none of the studies demonstrated an impact on mortality, occurrence of aortic dissection, or the need for elective repair of the aorta and/or aortic valve, though these studies were likely underpowered.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF002529", "CG-AC:RF002532" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACSU3440", "id": "CG-AC:AC067/tr/ACSU3440", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Patients should undergo complete aortic imaging at initial diagnosis and 6 months later to determine the rate of aortic enlargement followed by regular imaging, followed by echocardiograms annually or at least every 6 months if aortic root dilation is detected.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000047", "CG-AC:RF000049", "CG-AC:RF000045", "CG-AC:RF000050", "CG-AC:RF002527" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACCA3146", "id": "CG-AC:AC067/tr/ACCA3146", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Individuals at risk for recurrent pneumothorax should avoid breathing against a resistance (e.g., playing a brass instrument) or positive pressure ventilation (e.g., scuba diving).", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACCA3147", "id": "CG-AC:AC067/tr/ACCA3147", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Patients should avoid agents that stimulate the cardiovascular system including routine use of decongestants or triptans for migraine headache management.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000100", "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACCA3145", "id": "CG-AC:AC067/tr/ACCA3145", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Patients should also avoid heavy weight lifting (requiring straining).", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF002541" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACCA3144", "id": "CG-AC:AC067/tr/ACCA3144", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Athletes with LDS should not participate in any competitive sports that involve intense physical exertion or the potential for bodily collision.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF002527", "CG-AC:RF002541" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACCA3148", "id": "CG-AC:AC067/tr/ACCA3148", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Athletes with LDS should not participate in low and moderate static/low dynamic competitive sports if they have more than one of the following:\\n• Aortic root enlargement or dilation, or branch vessel enlargement\\n• Moderate to severe mitral regurgitation\\n• Extracardiac organ system involvement that makes participation hazardous.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF002527" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5039", "id": "CG-AC:AC067/tr/ACPM5039", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Because of a high risk of cervical spine instability, a flexion and extension x-ray of the cervical spine should be performed prior to intubation or any other procedure involving manipulation of the neck.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5031", "id": "CG-AC:AC067/tr/ACPM5031", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic regurgitation who are undergoing dental work or other procedures expected to contaminate the bloodstream with bacteria.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5030", "id": "CG-AC:AC067/tr/ACPM5030", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Pregnancy and the post-partum period confer a higher risk for aortic complications. Among women with aortopathy with aortic dissection and/or rupture during this period, about 50% of events occur in the third trimester and 33% in the peripartum period. Women should be managed closely throughout the pregnancy, ideally in a high-risk obstetric clinic with a multidisciplinary team. Pregnant women should have strict blood pressure control to prevent stage II hypertension. 4.4% of carefully monitored patients with MFS developed aortic dissection and in unmonitored patients, the risk is likely higher.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000047", "CG-AC:RF002541" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5032", "id": "CG-AC:AC067/tr/ACPM5032", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Optimal management of pneumothorax to prevent recurrence may require chemical or surgical pleurodesis or surgical removal of pulmonary blebs.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5034", "id": "CG-AC:AC067/tr/ACPM5034", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Individuals with a pathogenic variant in TGFBR1 or TGFBR2 should be taught the signs and symptoms of aortic dissection and should consider wearing a medical alert bracelet.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000049" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5033", "id": "CG-AC:AC067/tr/ACPM5033", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Hypertension should be promptly identified and treated", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF002541" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5036", "id": "CG-AC:AC067/tr/ACPM5036", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Beta-blockers or other medications can be used to reduce hemodynamic stress.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000100", "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5037", "id": "CG-AC:AC067/tr/ACPM5037", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Prophylactic surgical repair is typically recommended at an aortic diameter of ≥ 4.2 cm. However, this threshold may depend on rate of expansion, the presence of extra-aortic features, or specific genes involved (e.g., > 4.0 cm for TGFBR2). In patients with Marfan syndrome (MFS), timely repair of aortic aneurysms prolongs survival and approaches that of age-matched controls; however, evidence on effectiveness was not provided for patients with LDS.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000047", "CG-AC:RF000049", "CG-AC:RF000045", "CG-AC:RF000050", "CG-AC:RF002541", "CG-AC:RF002535" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5038", "id": "CG-AC:AC067/tr/ACPM5038", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "To establish the extent of disease and needs in an individual diagnosed with LDS, the following evaluations are recommended: \\n• Echocardiography\\n• MRA or CT scan with 3D reconstruction from head to pelvis to identify arterial aneurysms and arterial tortuosity throughout the arterial tree\\n• Radiographs to detect skeletal manifestations that may require attention by an orthopedist (e.g., severe scoliosis, cervical spine instability)\\n• Craniofacial examination for evidence of cleft palate and craniosynostosis\\n• Eye examination by an ophthalmologist with expertise in connective tissue disorders\\n• Consultation with a clinical geneticist and/or genetic counselor.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACSU3439", "id": "CG-AC:AC067/tr/ACSU3439", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "Patients should have yearly magnetic resonance imaging from the cerebrovascular circulation to the pelvis.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF000047" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5029", "id": "CG-AC:AC067/tr/ACPM5029", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "For female patients considering pregnancy, a prophylactic repair may be considered when the aortic root exceeds 4.0 cm.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000050" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5028", "id": "CG-AC:AC067/tr/ACPM5028", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Management of LDS is most effective through the coordinated input of a multidisciplinary team of specialists including a clinical geneticist, cardiologist, ophthalmologist, orthopedist, and cardiothoracic surgeon.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000100", "CG-AC:RF000324" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/tr/ACPM5040", "id": "CG-AC:AC067/tr/ACPM5040", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Hernias tend to recur after surgical intervention. A supporting mesh can be used during surgical repair to minimize recurrence risk.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000324" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei", "id": "CG-AC:AC067/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/nott", "id": "CG-AC:AC067/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/pgd", "id": "CG-AC:AC067/oei/pgd", "type": "EvidenceItem", "keyText": "Unknown", "sourceOfPopulation": "Other", "evidenceNarrative": { "@id": "CG-AC:AC067/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/cf", "id": "CG-AC:AC067/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC067/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/nh", "id": "CG-AC:AC067/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC067/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/tmc", "id": "CG-AC:AC067/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/moi", "id": "CG-AC:AC067/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC067/en/ACMI2584" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067/oei/pgm", "id": "CG-AC:AC067/oei/pgm", "type": "EvidenceItem", "keyText": "Unknown", "sourceOfPopulation": "Other", "tieredEvidenceNarrative": { "@id": "CG-AC:AC067/ten/PGM2657" } }, 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