{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/557eeee2-413e-41a4-b13c-f736741c8fa1/doc/sepio/version/1.1.1", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529230095", "label": "ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RMRP Version 1.1.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.1.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009595", "id": "MONDO:0009595", "label": "cartilage-hair hypoplasia", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1789", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1790", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1789/1791", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1789/1791", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1790", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1789", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1726", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1727", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1726/1728", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1726/1728", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1727", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1726", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1597", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1598", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1597/1599", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1651", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1652", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1651/1653", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "comments": "Klemetti et al., 2017 (PMID: 28094436) describes 4 patients with CHH that were compound heterozygous for g.70A>G and a 10-nt duplication at position −13 (reported sequence TACTCTGTGA). Patient 1 was the index case and Patients 2–4 were identified from the Finnish Skeletal Dysplasia Register. The g.70A>G (NC_000009.12:g.35657948T>C) variant has been previously classified as pathogenic by the SCID VCEP RMRP group. For Patient 1 \"Parents were both heterozygous carriers of one of the mutations\" confirming phase in trans with pathogenic variant (1pt). Phase is not given for patients 2-4 identified in th registry (0.5ptx 3 = 1.5 pts). (PM3_Strong, total 2.5pts) ", "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1651", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1585", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1586", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1585/1587", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "comments": "The duplication lies within the critical promoter region, between the TATA box (n.-32 to n.-24) and the transcription start site (n.4), consistent with functional importance and the variant also meets PM2 per specification caveat. (PM1_strong). ", "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1585/1587", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1586", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1585", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1769", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1579", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1580", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1579/1581", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1579/1581", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1580", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1579", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1672", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1673", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1672/1674", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1672/1674", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1673", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1672", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1595", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1831", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1832", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1831/1833", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "comments": "Clinical data shared through internal communication with Dr. Svetlana Vakkilainen describes a patient with CHH from 263G>T /-22_-13dup (patient 21 from PMID: 38187867). In the communication the patient met the following PP4 criteria: diagnostic criteria for SCID (1pt), SCID genetic testing conducted (0.5 pt), metaphyseal dysplasia (1 pt), and T cell lymphopenia (0.5pts). (PP4_Moderate, total 3 points)", "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1831/1833", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1832", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1831", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1679", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1837", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1838", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1837/1839", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1837/1839", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1838", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1837", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1703", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "comments": "No population data was found for this allele in gnomAD v4. (PM2_supporting).", "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA257182/MONDO:0009595/088/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "contributionDate": { "date": "2026/2/25", "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/CA257182/MONDO:0009595/088/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50091_EP170474596929316", "id": "CG-PCER-AGENT:CG_50091_EP170474596929316", "type": "Agent" }, "comments": "The insertion of 6 or more nucleotides increasing the distance between TATA box (n.-32 to n.-24) and the transcription start site (n.4), which has been shown to disrupt promoter function (PM4_Moderate).\n", "contributionDate": { "date": "2026/2/25", "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": "CA257182/MONDO:0009595/088/ci/CA257182/MONDO:0009595/088.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088/0/1591", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA257182/MONDO:0009595/088", "metadata": { "created": "2026-03-24T21:59:20.615Z", "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, 24 Mar 2026 21:59:20 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.1.1" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "557eeee2-413e-41a4-b13c-f736741c8fa1", "variant": { "@id": "https://reg.genome.network/allele/CA257182", "id": "CAR:CA257182", "relatedIdentifier": [ { "label": "NR_003051.3(RMRP):n.-22_-13dup10" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-06-24T01:59:44.574Z" } }, "status": { "code": 200, "name": "OK" } }