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"defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0053", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA000444/MONDO:0017623/003/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA000444/MONDO:0017623/003/ci/EV000000097", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "3 probands in Bubien 2013: #1: minimum CC score = 15; #2: also likely the pt in Derrey 2013, minimum CC score = 25 = 0.5 phenotype specificity point; #3: minimum CC score = 16.", "contributionDate": { "date": "2021/10/29", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator 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Peds score = 5 = 1 phenotype specificity point.", "contributionDate": { "date": "2021/10/29", "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": "CA000444/MONDO:0017623/003/ci/EV000000095", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/25288137", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA000444/MONDO:0017623/003/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000444/MONDO:0017623/003/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA000444/MONDO:0017623/003/0/1735", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA000444/MONDO:0017623/003", "metadata": { "created": "2024-09-27T22:35:46.941Z", "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 22:35:46 -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": "9c15b246-ef9f-4f55-a246-126b49710717", "variant": { "@id": "https://reg.genome.network/allele/CA000444", "id": "CAR:CA000444", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000314.6:c.395G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000314.6(PTEN):c.395G>A (p.Gly132Asp)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-06T01:25:33.914Z" } }, "status": { "code": 200, "name": "OK" } }