{
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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"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010604",
      "id": "MONDO:0010604",
      "label": "hemophilia B",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "evidenceItem": [
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            ],
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            },
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              "label": "Not Met"
            },
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          }
        ],
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                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0010",
              "label": "PM6",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
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                          "type": "Agent"
                        },
                        "comments": "1 male patient from the US (9240) with mild Hemophilia B in PMID: 9450791. Authors report that family studies were performed, which revealed that the variant was de novo in the maternal grandfather of the patient. (APM reviewed paper and agree PM6_mod)",
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                    ],
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                ],
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            ],
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              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1672",
        "type": "EvidenceLine"
      },
      {
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        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414445371/MONDO:0010604/080/ei/1/1832",
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              {
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                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
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            },
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        ],
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        },
        "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1831",
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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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                          "type": "Agent"
                        },
                        "comments": "The variant has a REVEL score of 0.727 (>0.6) and a CADD score of 25.8 (>21). SpliceAI predicts no splicing impact with scores <=0.2.",
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                      }
                    ],
                    "id": "CA414445371/MONDO:0010604/080/ci/CA414445371/MONDO:0010604/080.002",
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                  }
                ],
                "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1747/1749",
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              }
            ],
            "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1747",
        "type": "EvidenceLine"
      },
      {
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        "evidenceItem": [
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                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "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/CA414445371/MONDO:0010604/080/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA414445371/MONDO:0010604/080/ci/CA414445371/MONDO:0010604/080.002",
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The c.1010C>T (p.Ala337Val) variant is completely absent in gnomAD v2.1.1 & gnomAD v3. ",
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                          "date": "2024/7/11",
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                    ],
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            ],
            "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/1/1637",
            "statementOutcome": {
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              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414445371/MONDO:0010604/080/el/0/1735",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414445371/MONDO:0010604/080/ei/1/1736",
            "contribution": [
              {
                "agent": {
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                  "date": "2024/7/11",
                  "description": "Date on which this evidence was provided"
                },
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                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "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": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA414445371/MONDO:0010604/080/el/0/1735/1737",
                "evidenceItem": [
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                          "type": "Agent"
                        },
                        "comments": "Refresh 4/1/24: This variant is reported in at least 5 unique probands with mild FIX deficiency (PMID: 33760382; PMID: 29296726; PMID: 9450791), meeting phenotypic criteria for F9 PS4 and PP4_Moderate.  \n\nCount probands from MLOF (2 to bring to PS4_st).\n\nPotentially 4 patients with mild Hemophilia B from PMID: 29296726 may be added. But 1 patient from PMID: 9450791 meets F9 phenotype criteria, meeting PS4_Supporting at the time.",
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                          "date": "2024/7/11",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
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                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA414445371/MONDO:0010604/080/ci/CA414445371/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080/0/1735",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA414445371/MONDO:0010604/080",
    "metadata": {
      "created": "2024-09-28T04:57:43.925Z",
      "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 04:57:43 -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": "aaacd397-4714-4f45-99e0-0ea67fd5c209",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA414445371",
      "id": "CAR:CA414445371",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000133.4:c.1010C>T"
            }
          ],
          "preferred": true
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-22T18:28:20.611Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}