{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/2c91e453-6e50-4a68-b3e1-c61db58864f3/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007750",
      "id": "MONDO:0007750",
      "label": "hypercholesterolemia, familial",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404075595/MONDO:0007750/013/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404075595/MONDO:0007750/013/ei/1/1799",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/23",
                  "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/0011",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0011",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404075595/MONDO:0007750/013/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404075595/MONDO:0007750/013/ci/CA404075595/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "PM2 - This variant is absent from gnomAD (gnomAD v2.1.1) ",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "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": "CA404075595/MONDO:0007750/013/ci/CA404075595/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404075595/MONDO:0007750/013/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404075595/MONDO:0007750/013/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/23",
                  "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/CA404075595/MONDO:0007750/013/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404075595/MONDO:0007750/013/ci/CA404075595/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "BP4 - REVEL = 0.176. It is below 0.50. splicing evaluation required. \nFunctional data not available\nA) not on limits\nB) variant is exonic and at least 50bp upstream from canonical donor site and creates AG\nMES scores: de novo variant = -2.32; canonical acceptor = 7.07.\nRatio de novo variant/canonical donor = -2.32/7.07 --- de novo score is negative, so it is not used.\nVariant is not predicted to alter splicing.",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "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": "CA404075595/MONDO:0007750/013/ci/CA404075595/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA404075595/MONDO:0007750/013",
    "metadata": {
      "created": "2024-09-28T01:06:41.460Z",
      "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 01:06:41 -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": "2c91e453-6e50-4a68-b3e1-c61db58864f3",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA404075595",
      "id": "CAR:CA404075595",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000527.5:c.239A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000527.5(LDLR):c.239A>G (p.Asn80Ser)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T12:40:39.410Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}