{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/330a5d6a-cf78-4282-ad59-6f92c9ae5c89/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 1.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.1.0"
    },
    "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/CA5252588/MONDO:0008535/136/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5252588/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": "2026/8/28",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5252588/MONDO:0008535/136/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA5252588/MONDO:0008535/136/ci/CA5252588/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 0.145, 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": "2026/8/28",
                          "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": "CA5252588/MONDO:0008535/136/ci/CA5252588/MONDO:0008535/136.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5252588/MONDO:0008535/136/el/0/1579",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5252588/MONDO:0008535/136/ei/1/1580",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50037_EP171050563120248",
                  "id": "CG-PCER-AGENT:CG_50037_EP171050563120248",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/8/28",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA5252588/MONDO:0008535/136/el/0/1579/1581",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA5252588/MONDO:0008535/136/ci/CA5252588/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 has been observed in a patient with an alternate molecular basis for disease (pathogenic variant identified in ACVRL1) (BP5; internal lab contributors).",
                        "contributionDate": {
                          "date": "2026/8/28",
                          "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": "CA5252588/MONDO:0008535/136/ci/CA5252588/MONDO:0008535/136.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136/0/1579/1581",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136/1/1580",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136/0/1579",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA5252588/MONDO:0008535/136",
    "metadata": {
      "created": "2026-08-28T22:55:10.911Z",
      "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": "Fri, 28 Aug 2026 22:55:10 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26334-5",
      "id": "LN:LA26334-5",
      "label": "Likely Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "330a5d6a-cf78-4282-ad59-6f92c9ae5c89",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA5252588",
      "id": "CAR:CA5252588",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001114753.3:c.1883C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T06:26:09.172Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}