{
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      "label": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010602",
      "id": "MONDO:0010602",
      "label": "hemophilia A",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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                },
                "contributionDate": {
                  "date": "2024/10/11",
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                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
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                },
                "type": "Contribution"
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            ],
            "evidenceLine": [
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                        },
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                        "contributionDate": {
                          "date": "2024/10/11",
                          "description": "Date on which this evidence was provided"
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10567943/MONDO:0010602/071/ci/CA10567943/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1735",
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      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/el/0/1654",
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/ei/1/1655",
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                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/10/11",
                  "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": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/el/0/1654/1656",
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The c.5703C>A (p.Ile1901=) variant is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. Splice AI scores = 0.01, 0.01, 0.02, 0.02 which is less than the threshold of 0.05. BP7 was not applied because the nucleotide is conserved as shown by PhyloP 100 vertebrates score of 1.298 (cutoff <0.1) and PhastCons 100 vertebrates score of 1 (cutoff <0.5).",
                        "contributionDate": {
                          "date": "2024/10/11",
                          "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": "CA10567943/MONDO:0010602/071/ci/CA10567943/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/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": "2024/10/11",
                  "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/CA10567943/MONDO:0010602/071/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10567943/MONDO:0010602/071/ci/CA10567943/MONDO:0010602/071.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL has a score of 0 which is below the threshold of 0.3, and the splice site predictor Splice AI indicated that the variant has no impact on splicing (Splice AI score of 0.01, 0.01, 0.02, 0.02, which is less than the threshold of <0.05), evidence that does not predict a damaging effect on F8 function (BP4_Supporting)",
                        "contributionDate": {
                          "date": "2024/10/11",
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                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10567943/MONDO:0010602/071/ci/CA10567943/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10567943/MONDO:0010602/071/ei/1/1778",
            "contribution": [
              {
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                  "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/10/11",
                  "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/CA10567943/MONDO:0010602/071/el/0/1777/1779",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50041_EP17152769886754",
                          "type": "Agent"
                        },
                        "comments": "The c.5703C>A (p.Ile1901=) variant is reported at an MAF of 0.007915 (151/19078 alleles) in the South Asian population in gnomAD v2.1.1 with 105 hemizygotes, meeting BA1 criteria of MAF >= 0.000333.",
                        "contributionDate": {
                          "date": "2024/10/11",
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                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10567943/MONDO:0010602/071/ci/CA10567943/MONDO:0010602/071.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10567943/MONDO:0010602/071",
    "metadata": {
      "created": "2024-10-11T16:00:56.808Z",
      "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, 11 Oct 2024 16:00:56 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "e76604d7-5270-4ce3-9b34-e95d6adfb996",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10567943",
      "id": "CAR:CA10567943",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000132.4:c.5703C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000132.4(F8):c.5703C>A (p.Ile1901=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T23:14:11.800Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}