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"CG-PCER-VARINT:CA261612/MONDO:0021060/040/0/1735", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA261612/MONDO:0021060/040", "metadata": { "created": "2025-04-01T16:27:05.396Z", "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": "Tue, 01 Apr 2025 16:27:05 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "3d3d7a51-6ba9-4434-a6d9-ebf5e4b84ae4", "variant": { "@id": "https://reg.genome.network/allele/CA261612", "id": "CAR:CA261612", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_002880.4:c.1472C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/3d3d7a51-6ba9-4434-a6d9-ebf5e4b84ae4/doc/sepio/version/1.0.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0021060", "id": "MONDO:0021060", "label": "RASopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA261612/MONDO:0021060/004/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA261612/MONDO:0021060/004/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "contributionDate": { "date": "2018/12/10", "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/CA261612/MONDO:0021060/004/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA261612/MONDO:0021060/004/ci/EV000000212", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "Furthermore, the variant is in a location that has been defined by the ClinGen RASopathy Expert Panel to be a mutational hotspot or domain of RAF1 (PM1; 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20679480).", "contributionDate": { "date": "2018/12/10", "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": "CA261612/MONDO:0021060/004/ci/EV000000220", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/20679480", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA261612/MONDO:0021060/004/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA261612/MONDO:0021060/004/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA261612/MONDO:0021060/004/0/1828", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA261612/MONDO:0021060/004", "metadata": { "created": "2024-09-27T19:46:19.773Z", "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": "Fri, 27 Sep 2024 19:46:19 -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": "3d3d7a51-6ba9-4434-a6d9-ebf5e4b84ae4", "variant": { "@id": "https://reg.genome.network/allele/CA261612", "id": "CAR:CA261612", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_002880.3:c.1472C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T02:08:26.653Z" } }, "status": { "code": 200, "name": "OK" } }