{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/f5eaacff-9204-432f-905a-41b83607f51d/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1536422161", "label": "ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CYP1B1 Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0800472", "id": "MONDO:0800472", "label": "CYP1B1-related glaucoma with or without anterior segment dysgenesis", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This missense variant is located outside well-established functional domains.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1717", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/ei/1/1718", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1717/1719", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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 has not been identified as homozygous or compound heterozygous with one other variant. One affected individual carries the Gln144Arg variant but they also carry two other CYP1B1 variants (Phe156Cys and His413_I414delinsGlnLys, both VUS), phase unknown. This person is excluded from assessing PM3 as the causative variant cannot be determined.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1717/1719", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1718", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1717", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/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": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "PM5 did not apply to this variant at any strength as it did not meet PP3.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/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": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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 did not apply to this variant.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/ei/1/1595", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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 did not apply to this variant.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/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": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/ei/1/1769", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "Non-segregation involving this variant has not been reported.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/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": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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 did not apply to this variant.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/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": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/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": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This missense variant was not predicted to affect splicing, as assessed with SpliceAI (≤ 0.1), and it had a REVEL score = 0.445, which did not meet the ≥ 0.644 threshold required for PP3.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], 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"date": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "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 has not been identified de novo.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/CA1620036/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1620036/MONDO:0800472/104/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA1620036/MONDO:0800472/104/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1620036/MONDO:0800472/104/ci/EV000001913", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "Did not meet the OddsPath threshold for PS3_Supporting (> 2.1) or unable to determine threshold for abnormal impact on protein function in the assay.\n", "contributionDate": { "date": "2025/11/18", "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": "CA1620036/MONDO:0800472/104/ci/EV000001913", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/27243976", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104/0/1828", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1620036/MONDO:0800472/104", "metadata": { "created": "2025-11-18T22:18:56.787Z", "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, 18 Nov 2025 22:18:56 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "f5eaacff-9204-432f-905a-41b83607f51d", "variant": { "@id": "https://reg.genome.network/allele/CA1620036", "id": "CAR:CA1620036", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000104.4:c.431A>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-07T10:51:40.890Z" } }, "status": { "code": 200, "name": "OK" } }