{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/cbdbee38-f5df-4dea-a641-e7961a17dd29/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528074022",
      "label": "ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0013144",
      "id": "MONDO:0013144",
      "label": "antithrombin III deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1251311/MONDO:0013144/084/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1251311/MONDO:0013144/084/ei/1/1703",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50064_EP169601587241724",
                  "id": "CG-PCER-AGENT:CG_50064_EP169601587241724",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/9/29",
                  "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/0069",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                "id": "SEPIO:0000328",
                "label": "Benign Strong"
              },
              "id": "0069",
              "label": "BS2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1251311/MONDO:0013144/084/el/0/1702/1704",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA1251311/MONDO:0013144/084/ci/CA1251311/MONDO:0013144/084.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50064_EP169601587241724",
                          "id": "CG-PCER-AGENT:CG_50064_EP169601587241724",
                          "type": "Agent"
                        },
                        "comments": "This variant has been observed in nine individuals, of Indian heritage, with normal normal antithrombin levels, five of which showed normal levels with repeat testing (BS2; PMID: 27161325).",
                        "contributionDate": {
                          "date": "2023/9/29",
                          "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": "CA1251311/MONDO:0013144/084/ci/CA1251311/MONDO:0013144/084.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084/0/1702",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1251311/MONDO:0013144/084/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1251311/MONDO:0013144/084/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50064_EP169601587241724",
                  "id": "CG-PCER-AGENT:CG_50064_EP169601587241724",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/9/29",
                  "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/0087",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000325",
                "id": "SEPIO:0000325",
                "label": "Benign Stand Alone"
              },
              "id": "0087",
              "label": "BA1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1251311/MONDO:0013144/084/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA1251311/MONDO:0013144/084/ci/CA1251311/MONDO:0013144/084.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50064_EP169601587241724",
                          "id": "CG-PCER-AGENT:CG_50064_EP169601587241724",
                          "type": "Agent"
                        },
                        "comments": "\nThe highest population minor allele frequency in gnomAD v2.1.1 is 0.008133 (249/30616 alleles) in the South Asian population, which is higher than the ClinGen SERPINC1 threshold ([>0.002]) for BA1, and therefore meets this criterion (BA1).  ",
                        "contributionDate": {
                          "date": "2023/9/29",
                          "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": "CA1251311/MONDO:0013144/084/ci/CA1251311/MONDO:0013144/084.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA1251311/MONDO:0013144/084",
    "metadata": {
      "created": "2024-09-28T02:57:59.943Z",
      "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 02:57:59 -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": "cbdbee38-f5df-4dea-a641-e7961a17dd29",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA1251311",
      "id": "CAR:CA1251311",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000488.3:c.914C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000488.3(SERPINC1):c.914C>A (p.Pro305His)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-12T14:09:02.697Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}