{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/d3f3f93b-d3df-4db4-a82f-ef5711de2db4/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535826188", "label": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNT2 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/CA004651/MONDO:0005045/099/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1699", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1700", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1699/1701", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "This variant has been reported in individuals with HCM (LMM data, PMIDs: 7898523, 11606294, 12707239, 20624503, 22144547, 22260945, 24792744, 27532257, 27662471, 28771489) and is statistically increased in individuals with cardiomyopathy compared to controls [OR lower 95% CI >10]. Therefore, PS4_Moderate criteria has been applied.", "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1699", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1660", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1661", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1660/1662", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "This variant has been confirmed as a de novo occurrences (PM6_Supporting; OMGL Data).", "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1660/1662", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1661", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1660", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1648", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1649", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1648/1650", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "This variant segregated with disease in multiple affected individuals across multiple families (PP1_Strong; OMGL Data, LMM Data, PMID: 7898523). ", "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1648", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1696", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1697", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1696/1698", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "Functional studies have been reported and are sufficient to apply PS3_Supporting (PMID: 10497196, 10731693, 14636924, 22579624, 24480310, 27036851).", "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1696/1698", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1697", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1696", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "This variant is a deletion 1 amino acid and is not predicted to alter the protein reading-frame (PM4).", "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA004651/MONDO:0005045/099/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2025/11/13", "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/CA004651/MONDO:0005045/099/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "This variant is absent from gnomAD v2.1.1 (PM2_Supporting; http://gnomad.broadinstitute.org).", "contributionDate": { "date": "2025/11/13", "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" } ], "id": "CA004651/MONDO:0005045/099/ci/CA004651/MONDO:0005045/099.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099/0/1636", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA004651/MONDO:0005045/099", "metadata": { "created": "2025-11-13T22:37:13.816Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Thu, 13 Nov 2025 22:37:13 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "d3f3f93b-d3df-4db4-a82f-ef5711de2db4", "variant": { "@id": "https://reg.genome.network/allele/CA004651", "id": "CAR:CA004651", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001276345.2:c.517_519del" } ], "preferred": true }, { "alleleName": [ { "name": "NM_001276345.2:c.508GAG[3]" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-31T20:09:15.676Z" } }, "status": { "code": 200, "name": "OK" } }