{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/bd3b826a-5cd8-4c84-a916-054f34766f89/doc/sepio/version/1.0.1",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010119",
      "id": "MONDO:0010119",
      "label": "Glanzmann's thrombasthenia",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2021/1/28",
                  "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/0017",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000220",
                "id": "SEPIO:0000220",
                "label": "Pathogenic Very Strong"
              },
              "id": "0017",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913184943/MONDO:0010119/011/ci/CA913184943/MONDO:0010119/011.002",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "The 4bp deletion in exon 12 causes a frameshift and premature stop at amino acid position 377. The resulting transcript is predicted to undergo NMD.",
                        "contributionDate": {
                          "date": "2021/1/28",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA913184943/MONDO:0010119/011/ci/CA913184943/MONDO:0010119/011.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/ei/1/1832",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
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                },
                "contributionDate": {
                  "date": "2021/1/28",
                  "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/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1831/1833",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913184943/MONDO:0010119/011/ci/EV000001262",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "Patient 8 is a 3yo female from India, with occasional epistaxis, ecchymoses and gum bleeding. There was no family history of bleeding and parental consanguinity was reported. Platelet count was not reported but platelet aggregation was tested, using a lumi-aggregometer, with collagen, epinephrine, arachidonic acid and ristocetin. Impaired aggregation with all the agonists except ristocetin is not explicitly noted (but this is reported in the GT database entry 238). αIIbβ3 expression was analyzed by flow cytometry and patient classified as having Type I GT (GPIIB-IIIa < 5%). She was homozygous for the c.1075_1078del variant.",
                        "contributionDate": {
                          "date": "2021/1/28",
                          "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": "CA913184943/MONDO:0010119/011/ci/EV000001262",
                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/19172520",
                    "type": "CuratorInference"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1831",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/ei/1/1718",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2021/1/28",
                  "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/007",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "007",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913184943/MONDO:0010119/011/ci/EV000001262",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "Patient 8 is homozygous for the c.1075_1078del variant.",
                        "contributionDate": {
                          "date": "2021/1/28",
                          "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": "CA913184943/MONDO:0010119/011/ci/EV000001262",
                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/19172520",
                    "type": "CuratorInference"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913184943/MONDO:0010119/011/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                  "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2021/1/28",
                  "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/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/CA913184943/MONDO:0010119/011/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913184943/MONDO:0010119/011/ci/CA913184943/MONDO:0010119/011.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392",
                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "The variant is absent from gnomAD and other population databases.",
                        "contributionDate": {
                          "date": "2021/1/28",
                          "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": "CA913184943/MONDO:0010119/011/ci/CA913184943/MONDO:0010119/011.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA913184943/MONDO:0010119/011",
    "metadata": {
      "created": "2024-09-28T05:59:13.179Z",
      "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 05:59:13 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.1"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "bd3b826a-5cd8-4c84-a916-054f34766f89",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA913184943",
      "id": "CAR:CA913184943",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000419.4:c.1075_1078del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000419.4:c.1075_1078del"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T12:10:52.332Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}