{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/da64938b-7d69-47b6-b798-235f25be5a22/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1576926543",
      "label": "ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0008535",
      "id": "MONDO:0008535",
      "label": "telangiectasia, hereditary hemorrhagic, type 1",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA374969537/MONDO:0008535/136/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA374969537/MONDO:0008535/136/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50037_EP171050563120248",
                  "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/3/15",
                  "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/CA374969537/MONDO:0008535/136/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA374969537/MONDO:0008535/136/ci/CA374969537/MONDO:0008535/136.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50037_EP171050563120248",
                          "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v2.1.1 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2024/3/15",
                          "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": "CA374969537/MONDO:0008535/136/ci/CA374969537/MONDO:0008535/136.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA374969537/MONDO:0008535/136/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA374969537/MONDO:0008535/136/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50037_EP171050563120248",
                  "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/3/15",
                  "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/0080",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0080",
              "label": "BP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA374969537/MONDO:0008535/136/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA374969537/MONDO:0008535/136/ci/CA374969537/MONDO:0008535/136.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50037_EP171050563120248",
                          "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.126, which is below the threshold of ≤0.15, and the splice site predictor SpliceAI indicated that the variant has no impact on splicing, evidence that does not predict a damaging effect on ENG function (BP4).",
                        "contributionDate": {
                          "date": "2024/3/15",
                          "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": "CA374969537/MONDO:0008535/136/ci/CA374969537/MONDO:0008535/136.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA374969537/MONDO:0008535/136",
    "metadata": {
      "created": "2024-09-28T04:12:08.999Z",
      "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 04:12:08 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "da64938b-7d69-47b6-b798-235f25be5a22",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA374969537",
      "id": "CAR:CA374969537",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001114753.3:c.1961C>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T22:20:25.033Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}