{ "@context": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042", "id": "CG-AC:AC1042", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "27682", "producedAtUTC": "Thu, 10 Sep 2026 19:40:50 -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/AC1042/co", "id": "CG-AC:AC1042/co", "type": "GeneticCondition", "label": "Hereditary thrombocytopenia and hematological cancer predisposition syndrome" }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ou/Morbidity%20and%20mortality%20associated%20with%20hematological%20malignancies", "id": "CG-AC:AC1042/ou/Morbidity and mortality associated with hematological malignancies", "type": "Outcome", "label": "Morbidity and mortality associated with hematological malignancies" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ou/Bleeding%20complications%20with%20pregnancy%2C%20procedures%2C%20or%20trauma", "id": "CG-AC:AC1042/ou/Bleeding complications with pregnancy, procedures, or trauma", "type": "Outcome", "label": "Bleeding complications with pregnancy, procedures, or trauma" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/intv/Referral%20and%20surveillance%20to%20guide%20appropriate%20management%20by%20hematology%20team%2C%20including%20potential%20bone%20marrow%20biopsy", "id": "CG-AC:AC1042/intv/Referral and surveillance to guide appropriate management by hematology team, including potential bone marrow biopsy", "type": "Intervention", "label": "Referral and surveillance to guide appropriate management by hematology team, including potential bone marrow biopsy" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/intv/Referral%20and%20surveillance%20to%20guide%20appropriate%20management%20by%20hematology%20team", "id": "CG-AC:AC1042/intv/Referral and surveillance to guide appropriate management by hematology team", "type": "Intervention", "label": "Referral and surveillance to guide appropriate management by hematology team" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/cap", "id": "CG-AC:AC1042/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": "Wed, 09 Feb 2022 00:00:00 -0000", "releaseNum": "1.0.1", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/en/ACMI2652", "id": "CG-AC:AC1042/en/ACMI2652", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF003244", "CG-AC:RF003245", "CG-AC:RF003246", "CG-AC:RF003248", "CG-AC:RF003247" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/en/cf", "id": "CG-AC:AC1042/en/cf", "type": "EvidenceNarrative", "narrative": "HTHCPS is characterized by mild to moderate thrombocytopenia with normal platelet size, abnormal platelet functioning (defective release of delta granules and/or aggregation defects), and an increased risk of developing a hematologic malignancy. Bleeding is often greater than expected due to qualitative platelet dysfunction and may manifest as epistaxis, easy bruising, excessive bleeding during minor surgery or injuries, childbirth, and/or menorrhagia. The bleeding phenotype may vary drastically in severity; a minority of individuals require blood transfusions while bleeding is subclinical in others. Myeloid malignancies are the most common hematologic malignancy, including acute myelogenous leukemia and myelodysplastic syndrome. T-cell acute lymphoblastic leukemias and B-cell lymphomas have also been reported. Eczema and other skin manifestations (e.g., psoriasis) have been reported; they are usually mild but also highly variable.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF003244", "CG-AC:RF003245", "CG-AC:RF003246", "CG-AC:RF003248", "CG-AC:RF003247" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/en/nh", "id": "CG-AC:AC1042/en/nh", "type": "EvidenceNarrative", "narrative": "Age of onset of bleeding can be highly variable, with some individuals presenting in early infancy and others not recognizing their symptoms until much later in life. Severe thrombocytopenia or profound platelet dysfunction can result in recognition during the perinatal or infancy period. Hematologic malignancies can occur in childhood or adulthood; the range of age of onset is wide with a median age of 33 years. Age of onset of skin features is highly variable, but usually noted in childhood. Prognosis depends on the development of a hematologic malignancy and its disease course.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF003244", "CG-AC:RF003245", "CG-AC:RF003246", "CG-AC:RF003247" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/en/potgd", "id": "CG-AC:AC1042/en/potgd", "type": "EvidenceNarrative", "narrative": "More than 130 individuals with hereditary thrombocytopenia and hematological cancer predisposition syndrome (HTHCPS; also known as familial platelet disorder with associated myeloid malignancies) have been reported. The estimated prevalence at birth is less than 1/1,000,000. However, it is likely that HTHCPS is highly underdiagnosed.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF003244", "CG-AC:RF003245", "CG-AC:RF003246" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/CDEC2802", "id": "CG-AC:AC1042/ten/CDEC2802", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "The RUNX1 phenotype may be variable and can be indistinguishable from many other inherited conditions. Bleeding may be subclinical in some individuals, who may not notice that their bleeding is abnormal compared to the general population or may not bring it to medical attention.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/NOI2812", "id": "CG-AC:AC1042/ten/NOI2812", "type": "TieredEvidenceNarrative", "narrative": "The interventions identified in this report include regular surveillance, including the potential for bone marrow exams. These exams are invasive and may require anesthesia in young children. The curative therapy of choice for myeloid malignancies for many of the leukemia predisposition disorders is an allogenic HSCT. However, the use of HSCT prior to malignancy is debatable, due to transplantation associated risks, including transplantation-associated mortality, and incomplete penetrance.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF003244", "CG-AC:RF003245", "CG-AC:RF003246", "CG-AC:RF003248", "CG-AC:RF003247" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/ACPE3984", "id": "CG-AC:AC1042/ten/ACPE3984", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Other reported frequencies of clinical outcomes include:\\n• Prolonged bleeding and/or easy bruising: 90%\\n• Require platelet transfusions or medications to assist primary hemostasis such as antifibrinolytics (e.g., tranexamic acid, aminocaproic acid): 20-25%\\n• Clonal hematopoiesis: more than two thirds of young asymptomatic individuals.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003244", "CG-AC:RF003247" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/ACPE3983", "id": "CG-AC:AC1042/ten/ACPE3983", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Aggregate data from several family studies and databases (reported database includes 130 families who carry a germline pathogenic variant in RUNX1) allow estimates for frequency of the following features:\\n• Hematologic malignancy: 25-50%\\n• Lymphoid malignancy: unknown, but ~25% of families have at least 1 member with lymphoid malignancy\\n• Skin findings (eczema): up to 50%.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/PGM2756", "id": "CG-AC:AC1042/ten/PGM2756", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "A more recent source identified additional families have been identified for a total of 259 families.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF003249" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/PGM2755", "id": "CG-AC:AC1042/ten/PGM2755", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "To date, more than 130 families have been identified with a germline pathogenic variant in RUNX1.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/ten/EN2810", "id": "CG-AC:AC1042/ten/EN2810", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Expressivity is variable, both within and across families. Individuals carrying germline RUNX1 may be asymptomatic throughout their lifetime or develop familial platelet disorder with myeloid malignancies. The bleeding phenotype may be highly variable, even within families.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF003244", "CG-AC:RF003246", "CG-AC:RF003247" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACCA3292", "id": "CG-AC:AC1042/tr/ACCA3292", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Individuals should avoid factors that may increase the risk of developing hematologic malignancy such as unnecessary radiation.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACCA3291", "id": "CG-AC:AC1042/tr/ACCA3291", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Individuals should avoid activities with a high risk of trauma (e.g., high-risk contact sports).", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACCA3290", "id": "CG-AC:AC1042/tr/ACCA3290", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Individuals should avoid medications that affect platelet function (e.g., NSAIDs and antiplatelet agents).", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5424", "id": "CG-AC:AC1042/tr/ACPM5424", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Platelet counts and bleeding complications should be monitored during pregnancy. Qualitative and quantitative platelet disorders can lead to severe bleeding before, during, or after delivery. While thrombocytopenia itself (particularly if mild) in the absence of aggregation and storage pool disorders is unlikely to affect pregnancy, low platelet counts (<50 x 10/L) can limit the ability to receive epidural analgesia or neuraxial anesthesia. Strategies to increase platelet count (transfusion) can be considered on an individual basis in consultation with the obstetrician, hematologist, and anesthesiologist.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5425", "id": "CG-AC:AC1042/tr/ACPM5425", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Patients and families should be educated on the signs and symptoms of leukemia that should prompt medical attention: recurrent or severe fevers, excessive or persistent fatigue, unexplained weight loss, excessive bruising/bleeding, lymphadenopathy, and persistent or progressive bone pain.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003248" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5422", "id": "CG-AC:AC1042/tr/ACPM5422", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Consider use of a medical alert bracelet for thrombocytopenia, platelet dysfunction, or hematologic malignancy as indicated.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5429", "id": "CG-AC:AC1042/tr/ACPM5429", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Consider providing a medical letter for the school explaining easy bruising at baseline, as referrals for social services for concern of child abuse can occur.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5423", "id": "CG-AC:AC1042/tr/ACPM5423", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Though there is no specific treatment for HTHCPS, there are recommendations regarding the indications and timing of hematopoietic stem cell transplantation (HSCT) that vary. HSCT in pre-malignancy patients, particularly in the absence of any clonal progression, is debatable due to transplantation-associated risks and incomplete penetrance. Some suggested indications for HSCT include severe or symptomatic cytopenias, severe marrow dysplasia (particularly in the context of falling blood counts), complex or high-risk (e.g., monosomy 7) cytogenetic abnormalities (particularly if the clones are large or increasing in size) and increasing blasts >5%. Early partnership with a transplant expert allows coordinated evaluation and follow up to facilitate timely initiation of transplant.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244", "CG-AC:RF003245", "CG-AC:RF003246", "CG-AC:RF003248", "CG-AC:RF003247" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5427", "id": "CG-AC:AC1042/tr/ACPM5427", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Use of clotting promotors (e.g., desmopressin, epsilon aminocaproic acid, tranexamic acid) can be used for surgeries, injuries, or dental treatments. Platelet transfusions may be used for severe bleeding or procedures with a high bleeding risk.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5428", "id": "CG-AC:AC1042/tr/ACPM5428", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "An individual should undergo the following evaluations at diagnosis:\\n• Consultation with an expert in the area given the highly specialized the rapidly advancing evaluations and tailored treatments\\n• Collection of personal and family history\\n• Physical exam\\n• Complete blood count (CBC) with differential, reticulocyte count, and peripheral smear. The blood smear should be examined for dysplasias or other clues suggesting marrow pathology. \\n• Bone marrow aspirate and biopsy to rule out bone marrow malignancy, bone marrow failure, and for future comparative use, though not all hematologists will perform a bone marrow aspirate in the absence of CBC abnormalities. Family history may prompt a bone marrow exam in the absence of abnormal CBC values. In the absence of clinical urgency, the timing of initial bone marrow exam is often deferred for very small infants or patients for whom marrow exams are more challenging and anesthesia poses higher risk. \\n• Clinical evaluation for eczema or other skin concerns as needed.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244", "CG-AC:RF003248" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACPM5426", "id": "CG-AC:AC1042/tr/ACPM5426", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "At the time of this report, no formal clinical consensus guidelines have been published specific to RUNX1-associated HTHCPS. Available recommendations are primarily based on expert opinion.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003244", "CG-AC:RF003248" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACSU3594", "id": "CG-AC:AC1042/tr/ACSU3594", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "Peripheral blood count screening every 3 to 6 months is also recommended. No data was available for the benefit of routine of blood counts for HTHCPS. However, a prospective nonrandomized observational study of patients with germline TP53 pathogenic variants compared outcomes with or without cancer surveillance, including blood counts every 3 to 4 months, and demonstrated improved survival in the surveillance group. Most malignancies were solid tumors, and numbers were too small to draw specific conclusions regarding the effect of surveillance on leukemia incidence and outcomes. However, early detection of cytopenias or peripheral blasts prior to development of clinical symptoms may avoid complications that impact outcomes. Certainly, vigilance for potential signs of hematologic malignancy in the clinical history, examination, or other laboratory tests and prompt examination of the peripheral blood cell counts and consideration of a bone marrow examination are warranted.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF003248" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/tr/ACSU3595", "id": "CG-AC:AC1042/tr/ACSU3595", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "The following surveillance is recommended for individuals with HTHCPS (Tier 4):\\n• Clinical exam for constitutional signs and symptoms of malignancy (e.g., fatigue, unexplained fever, unexplained weight loss, shortness of breath) and physical exams for lymphadenopathy, hepatosplenomegaly, or other clinical findings suggestive of leukemia/lymphoma every 6-12 months\\n• Benefits of bone marrow exam in the absence of altered blood counts should be weighed with the risks of the procedure, particularly when general anesthesia is required for young children. Blood counts alone are not necessarily a sensitive marker, and cytopenias may not be apparent until after leukemia has developed. Dropping blood counts are often late signs of leukemia, so the strategy of waiting until the patient appears sick may miss the window of opportunity for treatment when outcomes are best prior to leukemia onset. Recommended frequency is annually, though there is no consensus for this recommendation. \\n• Skin exam as needed.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF003244", "CG-AC:RF003246", "CG-AC:RF003248" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei", "id": "CG-AC:AC1042/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/nott", "id": "CG-AC:AC1042/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/pgd", "id": "CG-AC:AC1042/oei/pgd", "type": "EvidenceItem", "keyText": "< 1-2 in 100000", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC1042/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/cf", "id": "CG-AC:AC1042/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC1042/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/nh", "id": "CG-AC:AC1042/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC1042/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/tmc", "id": "CG-AC:AC1042/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/moi", "id": "CG-AC:AC1042/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC1042/en/ACMI2652" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/pgm", "id": "CG-AC:AC1042/oei/pgm", "type": "EvidenceItem", "keyText": "Unknown", "sourceOfPopulation": "General population", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1042/ten/PGM2756" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/pe/ACPE3983", "id": "CG-AC:AC1042/oei/pe/ACPE3983", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1042/ten/ACPE3983" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/pe/ACPE3984", "id": "CG-AC:AC1042/oei/pe/ACPE3984", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1042/ten/ACPE3984" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042/oei/ex/EN2810", "id": "CG-AC:AC1042/oei/ex/EN2810", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1042/ten/EN2810" } } ] } }, "interventionEvidenceItem": { "@id": 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