{
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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243141",
      "label": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010602",
      "id": "MONDO:0010602",
      "label": "hemophilia A",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567758/MONDO:0010602/071/el/0/1657",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567758/MONDO:0010602/071/ei/1/1658",
            "contribution": [
              {
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                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/12",
                  "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/CA10567758/MONDO:0010602/071/el/0/1657/1659",
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "This variant has been observed in at least eight probands in the literature and one proband in an internal laboratory cohort with mild to moderate hemophilia A, both with and without inhibitors (PMID:41071185, 3 points PS4; PMID:24553597, 1 point PS4; PMID:23926300, 2 points PS4; PMID:20331761, 1 point PS4; PMID:10910913, 1 point PS4; internal laboratory cohort, 1 point PS4; Total 9 points PS4, PS4_Very_Strong).",
                        "contributionDate": {
                          "date": "2026/4/12",
                          "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": "CA10567758/MONDO:0010602/071/ci/CA10567758/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/0/1657/1659",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/1/1658",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/0/1657",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567758/MONDO:0010602/071/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567758/MONDO:0010602/071/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": "2026/4/12",
                  "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/CA10567758/MONDO:0010602/071/el/0/1636/1638",
                "evidenceItem": [
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/4/12",
                          "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": "CA10567758/MONDO:0010602/071/ci/CA10567758/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567758/MONDO:0010602/071/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567758/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": "2026/4/12",
                  "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/CA10567758/MONDO:0010602/071/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10567758/MONDO:0010602/071/ci/CA10567758/MONDO:0010602/071.002",
                    "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": "This variant is predicted to have a deleterious effect (REVEL score of 0.953; PP3), which is greater than the Clingen CFD threshold for PP3 (>0.6), with splicing predicted to be unaffected (SpliceAI scores less than 0.1).",
                        "contributionDate": {
                          "date": "2026/4/12",
                          "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": "CA10567758/MONDO:0010602/071/ci/CA10567758/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071/0/1747",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10567758/MONDO:0010602/071",
    "metadata": {
      "created": "2026-04-12T17:30:53.653Z",
      "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": "Sun, 12 Apr 2026 17:30:51 -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": "0a48c03f-d7c4-45f4-a631-e37c1c45edf2",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10567758",
      "id": "CAR:CA10567758",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_019863.3:c.347T>C"
            }
          ],
          "preferred": true
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-31T09:12:01.104Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}