{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/fe222f3a-c8e2-46d5-bba2-1a2def1ab2da/doc/sepio/version/2.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/635003679", "label": "ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYOC Version 2.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005338", "id": "MONDO:0005338", "label": "open-angle glaucoma", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This variant was not found in any genetic ancestry group of gnomAD (v4.1.0), meeting the ≤ 0.0001 threshold set for PM2_Supporting in a genetic ancestry group of at least 10,000 alleles.\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "No other missense variants at this amino acid residue have been identified.\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": 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"EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { 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"id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1663/1665", "evidenceItem": [ { "@id": 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"@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "No functional evidence has been found for this variant.\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": 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"https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "Only 1 proband with POAG had been reported (PMID: 14642164), not meeting the ≥ 2 probands threshold required to meet PS4_Supporting.", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": 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"id": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This criterion was not met as PM2_Supporting has been met.", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "No functional evidence has been found for this variant.\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This is not an intronic, synonymous or non-coding variant.\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1679", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "No segregations have been reported for this variant.\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343719476/MONDO:0005338/019/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "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/CA343719476/MONDO:0005338/019/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This criterion was not met as BP4 has been met.\n\n", "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": "CA343719476/MONDO:0005338/019/ci/CA343719476/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019/0/1747", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343719476/MONDO:0005338/019", "metadata": { "created": "2025-11-13T00:37:14.063Z", "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 00:37:13 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "fe222f3a-c8e2-46d5-bba2-1a2def1ab2da", "variant": { "@id": "https://reg.genome.network/allele/CA343719476", "id": "CAR:CA343719476", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000261.2:c.164G>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000261.2:c.164G>C" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-08-18T09:01:49.199Z" } }, "status": { "code": 200, "name": "OK" } }