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      "label": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1",
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      "url": "https://clinicalgenome.org/docs/clingen-platelet-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2.1/",
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100326",
      "id": "MONDO:0100326",
      "label": "Glanzmann thrombasthenia",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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              "id": "005",
              "label": "PP4",
              "type": "Criterion"
            },
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            ],
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              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1738",
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      },
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0062",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399795351/MONDO:0100326/011/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA399795351/MONDO:0100326/011/ci/CA399795351/MONDO:0100326/011.002",
                    "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 has a REVEL score of 0.746, exceeding the VCEP-established threshold of ≥0.7 and meeting the criteria for PP3. Other in silico tools also predict that this variant is \"damaging\" (SIFT) and \"probably damaging\" (PolyPhen2). Additional structural analysis is detailed in Pillois, et al., 2014 (doi.org/10.1182/blood.V124.21.1452.1452; no PMID available).",
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                        "type": "Contribution"
                      }
                    ],
                    "id": "CA399795351/MONDO:0100326/011/ci/CA399795351/MONDO:0100326/011.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1747/1749",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1747",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399795351/MONDO:0100326/011/el/0/1636",
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                  "date": "2023/10/17",
                  "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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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399795351/MONDO:0100326/011/el/0/1636/1638",
                "evidenceItem": [
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                        "comments": "This variant is not observed in gnomAD v2.1.1 or v3, meeting criteria for PM2_supporting.",
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                          "date": "2023/10/17",
                          "description": "Date on which this evidence was provided"
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1636",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399795351/MONDO:0100326/011/el/0/1609",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399795351/MONDO:0100326/011/ei/1/1610",
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              {
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                  "type": "Agent"
                },
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                  "date": "2023/10/17",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0027",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0027",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399795351/MONDO:0100326/011/el/0/1609/1611",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA399795351/MONDO:0100326/011/ci/CA399795351/MONDO:0100326/011.002",
                    "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 has been observed in a proband harboring a second VCEP-classified pathogenic variant (c.1413C>G, p.Tyr471Ter), however the phase of the variants was unconfirmed (PMID: 25728920).",
                        "contributionDate": {
                          "date": "2023/10/17",
                          "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": "CA399795351/MONDO:0100326/011/ci/CA399795351/MONDO:0100326/011.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1609/1611",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/1/1610",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011/0/1609",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA399795351/MONDO:0100326/011",
    "metadata": {
      "created": "2024-09-28T03:07:06.991Z",
      "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": "Sat, 28 Sep 2024 03:07:06 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "aa7ee6c1-fa11-4a62-a4de-f6031d10f1c7",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA399795351",
      "id": "CAR:CA399795351",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000419.5:c.2468G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000419.5:c.2468G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T03:35:10.943Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}