{
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    "assertionMethod": {
      "@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 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010604",
      "id": "MONDO:0010604",
      "label": "hemophilia B",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/el/0/1636",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/ei/1/1637",
            "contribution": [
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                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/2/27",
                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/el/0/1636/1638",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The c.471T>C (p.Cys157=) variant is absent from males in population databases (gnomAD v2.1.1/gnomAD v3).\n",
                        "contributionDate": {
                          "date": "2026/2/27",
                          "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": "CA518861298/MONDO:0010604/080/ci/CA518861298/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/2/27",
                  "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/CA518861298/MONDO:0010604/080/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA518861298/MONDO:0010604/080/ci/CA518861298/MONDO:0010604/080.002",
                    "contribution": [
                      {
                        "agent": {
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "No REVEL prediction available for the synonymous variant. The Cys157= synonymous variant is predicted to have no impact on splicing based on SpliceAI prediction. A cryptic donor site is predicted to be created at position +49 with a delta score of 0.08, which is less than the 0.1 cutoff. \n",
                        "contributionDate": {
                          "date": "2026/2/27",
                          "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": "CA518861298/MONDO:0010604/080/ci/CA518861298/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA518861298/MONDO:0010604/080/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50041_EP17152769886754",
                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/2/27",
                  "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/CA518861298/MONDO:0010604/080/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA518861298/MONDO:0010604/080/ci/CA518861298/MONDO:0010604/080.002",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The Cys157= synonymous variant is predicted to have minimal to no impact on splicing based on SpliceAI prediction but the nucleotide is conserved to a degree, based on agreement between PhyloP (0.445) and PhastCons (1) .\t\n",
                        "contributionDate": {
                          "date": "2026/2/27",
                          "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": "CA518861298/MONDO:0010604/080/ci/CA518861298/MONDO:0010604/080.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080/0/1654",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA518861298/MONDO:0010604/080",
    "metadata": {
      "created": "2026-02-27T18:58:39.742Z",
      "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, 27 Feb 2026 18:58:39 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.2.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "5abc37e1-ba45-4fb1-8f39-596f10a548c6",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA518861298",
      "id": "CAR:CA518861298",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000133.4:c.471T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000133.4(F9):c.471T>C (p.Cys157=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T18:23:19.431Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}