{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/cfd48011-0567-4737-89f3-94111d00add9/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528062415", "label": "ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0019565", "id": "MONDO:0019565", "label": "hereditary von Willebrand disease", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "contributionDate": { "date": "2025/11/4", "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/CA6403892/MONDO:0019565/081/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "comments": "The c.114C>T (p.Phe38=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP4).", "contributionDate": { "date": "2025/11/4", "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": "CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "contributionDate": { "date": "2025/11/4", "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/CA6403892/MONDO:0019565/081/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "comments": "The Grpmax filtering allele frequency in gnomAD v4.1 is 0.004699 (based on 5669/1180026 alleles in the European non Finnish population, and 19 homozygotes). This intermediate allele frequency is lower than the ClinGen VWD VCEP threshold (>0.01) for BS1 but higher than the threshold (<0.0001 for type 2) for PM2_Supporting. ", "contributionDate": { "date": "2025/11/4", "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": "CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/el/0/1579", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/ei/1/1580", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "contributionDate": { "date": "2025/11/4", "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/CA6403892/MONDO:0019565/081/el/0/1579/1581", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "comments": "A case carrying the c.114C>T (p.Phe38=) variant was also found to carry the ClinGen VWD VCEP curated pathogenic variant c.2435del. The case is asserted to be VWD 3 which is typically a biallelic variant but there is not a second variant in this case curated pathogenic (PMID 16321553).", "contributionDate": { "date": "2025/11/4", "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": "CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1579/1581", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/1/1580", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1579", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403892/MONDO:0019565/081/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "contributionDate": { "date": "2025/11/4", "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/CA6403892/MONDO:0019565/081/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245", "id": "CG-PCER-AGENT:CG_50051_EP172323000528245", "type": "Agent" }, "comments": "The c.114C>T (p.Phe38=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP7).", "contributionDate": { "date": "2025/11/4", "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": "CA6403892/MONDO:0019565/081/ci/CA6403892/MONDO:0019565/081.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081/0/1654", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA6403892/MONDO:0019565/081", "metadata": { "created": "2025-11-06T21:34:36.373Z", "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, 06 Nov 2025 21:34:36 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26334-5", "id": "LN:LA26334-5", "label": "Likely Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "cfd48011-0567-4737-89f3-94111d00add9", "variant": { "@id": "https://reg.genome.network/allele/CA6403892", "id": "CAR:CA6403892", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000552.5:c.114C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000552.5(VWF):c.114C>T (p.Phe38=)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T10:26:41.344Z" } }, "status": { "code": 200, "name": "OK" } }