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      "label": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BB Version 1.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
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    },
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009276",
      "id": "MONDO:0009276",
      "label": "Bernard-Soulier syndrome",
      "type": "GeneticCondition"
    },
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1762/1764",
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              }
            ],
            "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/1/1763",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
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            },
            "type": "CriterionAssessment"
          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1762",
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                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
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                        "contributionDate": {
                          "date": "2026/4/2",
                          "description": "Date on which this evidence was provided"
                        },
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                    ],
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                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1609/1611",
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            ],
            "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/1/1610",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1609",
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      },
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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                  "label": "curator role",
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                },
                "type": "Contribution"
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410676379/MONDO:0009276/082/el/0/1678/1680",
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                          "type": "Agent"
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                        "contributionDate": {
                          "date": "2026/4/2",
                          "description": "Date on which this evidence was provided"
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                        },
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                    ],
                    "id": "CA410676379/MONDO:0009276/082/ci/CA410676379/MONDO:0009276/082.002",
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                ],
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            ],
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            "statementOutcome": {
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              "label": "Met"
            },
            "type": "CriterionAssessment"
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        },
        "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1678",
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                "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1633/1635",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1633",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410676379/MONDO:0009276/082/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA410676379/MONDO:0009276/082/ei/1/1637",
            "contribution": [
              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/2",
                  "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/CA410676379/MONDO:0009276/082/el/0/1636/1638",
                "evidenceItem": [
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                    "contribution": [
                      {
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).\n",
                        "contributionDate": {
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                          "description": "Date on which this evidence was provided"
                        },
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA410676379/MONDO:0009276/082/ci/CA410676379/MONDO:0009276/082.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA410676379/MONDO:0009276/082",
    "metadata": {
      "created": "2026-04-02T21:02:29.439Z",
      "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": "Thu, 02 Apr 2026 21:02:29 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "faeeb1bb-8b0d-41c0-bf80-8bc990444d0a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA410676379",
      "id": "CAR:CA410676379",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000407.5:c.96C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000407.5:c.96C>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-27T21:49:17.315Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}