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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. 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"comments": "Absent gnomAD\n\nI agree (FH)", "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": "CA10587096/MONDO:0017623/003/ci/CA10587096/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1798/1800", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/1/1799", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1798", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10587096/MONDO:0017623/003/el/0/1594", "evidenceItem": [ { "@id": 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"comments": "HSF and NNsplice appear no impact; MaxEnt found slight weakening of splice acceptor (-13.71%). Would like to review with biocuration team.\n\nI agree. (FH)", "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": "CA10587096/MONDO:0017623/003/ci/CA10587096/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10587096/MONDO:0017623/003/el/0/1597", "evidenceItem": [ { "@id": 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"comments": "Absent gnomAD\n\nI agree (FH)", "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": "CA10587096/MONDO:0017623/003/ci/CA10587096/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10587096/MONDO:0017623/003/el/0/1615", "evidenceItem": [ { "@id": 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"comments": "Absent gnomAD\n\nI agree (FH)", "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": "CA10587096/MONDO:0017623/003/ci/CA10587096/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10587096/MONDO:0017623/003/el/0/1768", "evidenceItem": [ { "@id": 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"comments": "But concern re: conservation.\n\nI agree (FH)", "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": "CA10587096/MONDO:0017623/003/ci/CA10587096/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10587096/MONDO:0017623/003/el/0/1780", "evidenceItem": [ { "@id": 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"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": "CA10587096/MONDO:0017623/003/ci/CA10587096/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003/0/1591", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10587096/MONDO:0017623/003", "metadata": { "created": "2024-09-27T19:54:22.221Z", "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 19:54:22 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26334-5", "id": "LN:LA26334-5", "label": "Likely Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "2f3d636c-4b73-48ee-93dd-243ce38e9778", "variant": { "@id": "https://reg.genome.network/allele/CA10587096", "id": "CAR:CA10587096", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000314.6:c.651C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000314.6(PTEN):c.651C>T (p.Val217=)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T01:21:32.136Z" } }, "status": { "code": 200, "name": "OK" } }