{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/4ca2eb66-cce1-41af-ad2e-46d4ffe0abfe/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535831942", "label": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL3 Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005045", "id": "MONDO:0005045", "label": "hypertrophic cardiomyopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA013849/MONDO:0005045/103/el/0/1606", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA013849/MONDO:0005045/103/ei/1/1607", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/14", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA013849/MONDO:0005045/103/el/0/1606/1608", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA013849/MONDO:0005045/103/ci/CA013849/MONDO:0005045/103.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "Walsh 2017: 1/1535 Oxford, 2/2650 LMM (african american, asian, unspecified, decided to use global gnomad)\ngnoMAD: 2/129136 NFE \n4/282804 global\n\n3 in 4185 case genotypes vs 4 in 141402 control genotypes gives an odds ratio of 25.36 (95%CI=5.67-113.34)\n\nLower bound CI:\nStrong 95%CI=5.67 (threshold for strong ≥20)\nModerate 95%CI=5.67 (threshold for moderate ≥10)\nSupporting 95%CI=5.67 (threshold for supporting ≥5)\n\nThe lower bound 95%CI is greater than 5 (95%CI=5.67). 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