{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/1bab323b-11d1-4b76-8ae4-010d404e4fdc/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/CA6403395/MONDO:0019565/081/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403395/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": "2026/4/6",
                  "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/CA6403395/MONDO:0019565/081/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6403395/MONDO:0019565/081/ci/CA6403395/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 computational predictor REVEL gives a score of 0.0630, which is below the  ClinGen VWD VCEP threshold of <0.290 and does not predict a damaging effect on VWF function (BP4). Additionally, the computational splicing predictor SpliceAI indicated that the variant has no impact on splicing.",
                        "contributionDate": {
                          "date": "2026/4/6",
                          "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": "CA6403395/MONDO:0019565/081/ci/CA6403395/MONDO:0019565/081.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403395/MONDO:0019565/081/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403395/MONDO:0019565/081/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50051_EP172323000528245",
                  "id": "CG-PCER-AGENT:CG_50051_EP172323000528245",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/6",
                  "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/CA6403395/MONDO:0019565/081/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6403395/MONDO:0019565/081/ci/CA6403395/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 0.7007 (based on 64214/91042 alleles in the south Asian population, including 22835 homozygotes), which is higher than the ClinGen VWD VCEP threshold  of >0.1 for BA1.",
                        "contributionDate": {
                          "date": "2026/4/6",
                          "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": "CA6403395/MONDO:0019565/081/ci/CA6403395/MONDO:0019565/081.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA6403395/MONDO:0019565/081",
    "metadata": {
      "created": "2026-04-06T16:32:29.450Z",
      "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": "Mon, 06 Apr 2026 16:32:28 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "1bab323b-11d1-4b76-8ae4-010d404e4fdc",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA6403395",
      "id": "CAR:CA6403395",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000552.5:c.1451A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000552.5(VWF):c.1451A>G (p.His484Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-12T03:24:12.972Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}