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"criterion": { "@id": "https://obofoundry.org/sepio/clingen/0057", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "0057", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10586400/MONDO:0100216/024/el/0/1699/1701", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10586400/MONDO:0100216/024/ci/CA10586400/MONDO:0100216/024.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50050_EP165729564243098", "id": "CG-PCER-AGENT:CG_50050_EP165729564243098", "type": "Agent" }, "comments": "3 points; Reported in 2 individuals with PPB (Brenneman et al. 2015. PMID: 26925222; 2 points); Reported in a proband with PPB (4y) and their parent with thyroid cysts (30y) (Family 11, Slade et al. 2011. PMID: 21266384; 1 point).\n", "contributionDate": { "date": "2026/10/5", "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": "CA10586400/MONDO:0100216/024/ci/CA10586400/MONDO:0100216/024.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10586400/MONDO:0100216/024/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10586400/MONDO:0100216/024/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10586400/MONDO:0100216/024/0/1699", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10586400/MONDO:0100216/024", "metadata": { "created": "2026-10-15T19:13:25.059Z", "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, 15 Oct 2026 19:13:24 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.1.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "47c2c6a7-8144-418e-b4d0-69c01b152e08", "variant": { "@id": "https://reg.genome.network/allele/CA10586400", "id": "CAR:CA10586400", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_177438.2:c.5465A>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_177438.2(DICER1):c.5465A>T (p.Asp1822Val)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-03T19:56:27.145Z" } }, "status": { "code": 200, "name": "OK" } }