{
  "data": {
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      "label": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010602",
      "id": "MONDO:0010602",
      "label": "hemophilia A",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414915806/MONDO:0010602/071/el/0/1657",
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                },
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                },
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                },
                "type": "Contribution"
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                        },
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                        "contributionDate": {
                          "date": "2024/12/6",
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                        },
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                    ],
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                  }
                ],
                "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1657/1659",
                "type": "EvidenceLine"
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
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            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1657",
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/12/6",
                  "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/CA414915806/MONDO:0010602/071/el/0/1780/1782",
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2024/12/6",
                          "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": "CA414915806/MONDO:0010602/071/ci/CA414915806/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1780",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414915806/MONDO:0010602/071/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414915806/MONDO:0010602/071/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/12/6",
                  "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/CA414915806/MONDO:0010602/071/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA414915806/MONDO:0010602/071/ci/CA414915806/MONDO:0010602/071.002",
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The c.1244C>T (p.Ala415Val) missense variant has a REVEL score of 0.829 (>0.6). No splicing impact is predicted by spliceAI. ",
                        "contributionDate": {
                          "date": "2024/12/6",
                          "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": "CA414915806/MONDO:0010602/071/ci/CA414915806/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1747",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414915806/MONDO:0010602/071/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414915806/MONDO:0010602/071/ei/1/1637",
            "contribution": [
              {
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                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/12/6",
                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
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                "evidenceItem": [
                  {
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
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                        },
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                          "date": "2024/12/6",
                          "description": "Date on which this evidence was provided"
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA414915806/MONDO:0010602/071/ci/CA414915806/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA414915806/MONDO:0010602/071",
    "metadata": {
      "created": "2024-12-20T22:34:53.539Z",
      "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": "Fri, 20 Dec 2024 22:34:53 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "9b972ba2-506e-4a79-84cf-b8592ad30afa",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA414915806",
      "id": "CAR:CA414915806",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000132.3:c.1244C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000132.3:c.1244C>T"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-14T22:27:56.658Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}