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      "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"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010604",
      "id": "MONDO:0010604",
      "label": "hemophilia B",
      "type": "GeneticCondition"
    },
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              "label": "PM5",
              "type": "Criterion"
            },
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
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            "type": "CriterionAssessment"
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        ],
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        "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/0/1780",
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                "type": "Contribution"
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            ],
            "criterion": {
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                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414446709/MONDO:0010604/080/el/0/1831/1833",
                "evidenceItem": [
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                          "date": "2024/7/11",
                          "description": "Date on which this evidence was provided"
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/0/1831/1833",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/0/1831",
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      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414446709/MONDO:0010604/080/el/0/1747",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414446709/MONDO:0010604/080/ei/1/1748",
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                  "label": "curator role",
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                "type": "Contribution"
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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0062",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
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                        "comments": "The computational predictor REVEL gives a score of 0.981, which is above the threshold of 0.6, evidence that correlates with impact to F9 function (PP3).",
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        "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/0/1747",
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414446709/MONDO:0010604/080/el/0/1636/1638",
                "evidenceItem": [
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                          "date": "2024/7/11",
                          "description": "Date on which this evidence was provided"
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414446709/MONDO:0010604/080/el/0/1735",
        "evidenceItem": [
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            "contribution": [
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0053",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0053",
              "label": "PS4",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414446709/MONDO:0010604/080/el/0/1735/1737",
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                        },
                        "comments": "This variant has been reported in at least 8 probands meeting the hemophilia B phenotype criteria specified by the Coagulation Factor Deficiency VCEP (PS4_VeryStrong; PMID: 10874302, 29296726, 1680287, 8055323, 12588353).",
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
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                ],
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            ],
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            "statementOutcome": {
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              "label": "Met"
            },
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          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080/0/1735",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA414446709/MONDO:0010604/080",
    "metadata": {
      "created": "2024-09-28T04:58:41.438Z",
      "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": "Sat, 28 Sep 2024 04:58:41 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "45aad5b1-fcb9-4818-8df5-a5b8fe03662b",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA414446709",
      "id": "CAR:CA414446709",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001313913.2:c.1121G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001313913.2:c.1121G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-27T19:18:55.401Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}