{
  "data": {
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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528072643",
      "label": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP9 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009276",
      "id": "MONDO:0009276",
      "label": "Bernard-Soulier syndrome",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2602623/MONDO:0009276/083/el/0/1684",
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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"
                },
                "contributionDate": {
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                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2602623/MONDO:0009276/083/el/0/1684/1686",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "The computational splicing predictor SpliceAI indicated that the variant has no impact on splicing (score <0.1).",
                        "contributionDate": {
                          "date": "2026/1/20",
                          "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"
                      }
                    ],
                    "id": "CA2602623/MONDO:0009276/083/ci/CA2602623/MONDO:0009276/083.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/0/1684/1686",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/0/1684",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2602623/MONDO:0009276/083/el/0/1777",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2602623/MONDO:0009276/083/ei/1/1778",
            "contribution": [
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                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/20",
                  "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/CA2602623/MONDO:0009276/083/el/0/1777/1779",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA2602623/MONDO:0009276/083/ci/CA2602623/MONDO:0009276/083.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "The Grpmax Filtering allele frequency in gnomAD v4.1.0 is 0.001318 (based on 68/44866 alleles) in the South Asian population, which is higher than the ClinGen PD VCEP threshold (>0.001), and therefore meets this criterion (BA1).\n",
                        "contributionDate": {
                          "date": "2026/1/20",
                          "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": "CA2602623/MONDO:0009276/083/ci/CA2602623/MONDO:0009276/083.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/0/1777",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2602623/MONDO:0009276/083/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2602623/MONDO:0009276/083/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/20",
                  "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/CA2602623/MONDO:0009276/083/el/0/1654/1656",
                "evidenceItem": [
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "The c.18C>T (p.Ala6=) variant in GP9 is a synonymous variant that is not predicted by SpliceAI to impact splicing (score <0.1). In addition, it occurs at a nucleotide that is not highly conserved as shown by phyloP score of -0.7486 (BP7).",
                        "contributionDate": {
                          "date": "2026/1/20",
                          "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": "CA2602623/MONDO:0009276/083/ci/CA2602623/MONDO:0009276/083.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083/0/1654",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2602623/MONDO:0009276/083",
    "metadata": {
      "created": "2026-01-20T16:27:52.165Z",
      "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": "Tue, 20 Jan 2026 16:27:52 -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": "e4127e2c-fa98-4675-9431-a74187085d18",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2602623",
      "id": "CAR:CA2602623",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000174.5:c.18C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000174.5(GP9):c.18C>T (p.Ala6=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T10:11:34.601Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}