{
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      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527859052",
      "label": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010604",
      "id": "MONDO:0010604",
      "label": "hemophilia B",
      "type": "GeneticCondition"
    },
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                  "description": "Date on which this evidence was provided"
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                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
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              }
            ],
            "evidenceLine": [
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                          "type": "Agent"
                        },
                        "comments": "At least 3 mild hemophilia B patients, including 1 female patient, are reported in the literature (PMID: 29296726) meeting F9 phenotype criteria. (FIX:C in males = 16%, 28.4%, 34%; FIX:C in female = 33%)",
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                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1699/1701",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/1/1700",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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          "@id": "https://obofoundry.org/sepio"
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        "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1699",
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
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                "contributionDate": {
                  "date": "2025/3/7",
                  "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"
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414434494/MONDO:0010604/080/el/0/1831/1833",
                "evidenceItem": [
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "Counting one proband from MLOF",
                        "contributionDate": {
                          "date": "2025/3/7",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        "type": "Contribution"
                      }
                    ],
                    "id": "CA414434494/MONDO:0010604/080/ci/CA414434494/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1831",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414434494/MONDO:0010604/080/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414434494/MONDO:0010604/080/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": "2025/3/7",
                  "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/CA414434494/MONDO:0010604/080/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA414434494/MONDO:0010604/080/ci/CA414434494/MONDO:0010604/080.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "This missense variant has a REVEL score of 0.659 (>0.6)",
                        "contributionDate": {
                          "date": "2025/3/7",
                          "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": "CA414434494/MONDO:0010604/080/ci/CA414434494/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414434494/MONDO:0010604/080/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414434494/MONDO:0010604/080/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/3/7",
                  "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"
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414434494/MONDO:0010604/080/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA414434494/MONDO:0010604/080/ci/CA414434494/MONDO:0010604/080.002",
                    "contribution": [
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The c.86C>T (p.Thr29Ile) variant is completely absent from gnomAD v2.1.1 and gnomAD v3.1.1\n",
                        "contributionDate": {
                          "date": "2025/3/7",
                          "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": "CA414434494/MONDO:0010604/080/ci/CA414434494/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA414434494/MONDO:0010604/080",
    "metadata": {
      "created": "2025-03-07T16:41:50.385Z",
      "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, 07 Mar 2025 16:41:50 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.2.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "57ee28b4-485e-499c-ac29-4702ddc55d99",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA414434494",
      "id": "CAR:CA414434494",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001313913.2:c.86C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001313913.2:c.86C>T"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-31T02:20:06.664Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}