{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/ebf8f52f-ecdc-469b-9a2d-d41227f0945a/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/CA6403568/MONDO:0019565/081/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403568/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": "2025/12/2",
                  "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/CA6403568/MONDO:0019565/081/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6403568/MONDO:0019565/081/ci/CA6403568/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 NM_000552.5:c.1077C>T (p.Pro359=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP4).",
                        "contributionDate": {
                          "date": "2025/12/2",
                          "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": "CA6403568/MONDO:0019565/081/ci/CA6403568/MONDO:0019565/081.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403568/MONDO:0019565/081/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403568/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": "2025/12/2",
                  "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/CA6403568/MONDO:0019565/081/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6403568/MONDO:0019565/081/ci/CA6403568/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 0.003637 (based on 362/91706 alleles in the south Asian population, this also includes 5 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. \n",
                        "contributionDate": {
                          "date": "2025/12/2",
                          "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": "CA6403568/MONDO:0019565/081/ci/CA6403568/MONDO:0019565/081.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403568/MONDO:0019565/081/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6403568/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": "2025/12/2",
                  "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/CA6403568/MONDO:0019565/081/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6403568/MONDO:0019565/081/ci/CA6403568/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 NM_000552.5:c.1077C>T (p.Pro359=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP7).",
                        "contributionDate": {
                          "date": "2025/12/2",
                          "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": "CA6403568/MONDO:0019565/081/ci/CA6403568/MONDO:0019565/081.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081/0/1654",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA6403568/MONDO:0019565/081",
    "metadata": {
      "created": "2025-12-02T18:19:56.103Z",
      "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, 02 Dec 2025 18:19:56 -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": "ebf8f52f-ecdc-469b-9a2d-d41227f0945a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA6403568",
      "id": "CAR:CA6403568",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000552.5:c.1077C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000552.5(VWF):c.1077C>T (p.Pro359=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T18:47:42.342Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}