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    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007750",
      "id": "MONDO:0007750",
      "label": "hypercholesterolemia, familial",
      "type": "GeneticCondition"
    },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1798",
        "evidenceItem": [
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                },
                "contributionDate": {
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                "type": "Contribution"
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            ],
            "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/CA040016/MONDO:0007750/013/el/0/1798/1800",
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                        },
                        "comments": "PopMax MAF = 0.00056 in Latino population in gnomAD (gnomAD version: 2.1.1).",
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                          "date": "2022/12/23",
                          "description": "Date on which this evidence was provided"
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                      }
                    ],
                    "id": "CA040016/MONDO:0007750/013/ci/CA040016/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/ei/1/1748",
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              {
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                "contributionDate": {
                  "date": "2022/12/23",
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                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0062",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1747/1749",
                "evidenceItem": [
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                          "type": "Agent"
                        },
                        "comments": "REVEL = 0.773.",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
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                      }
                    ],
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                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1828",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/ei/1/1829",
            "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/0052",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0052",
              "label": "PS3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1828/1830",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA040016/MONDO:0007750/013/ci/CA040016/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": "Functional data is not available.",
                        "contributionDate": {
                          "date": "2022/12/23",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA040016/MONDO:0007750/013/ci/CA040016/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1828/1830",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/1/1829",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1828",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1780",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/ei/1/1781",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
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                },
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                  "date": "2022/12/23",
                  "description": "Date on which this evidence was provided"
                },
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                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/008",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "008",
              "label": "PM5",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA040016/MONDO:0007750/013/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA040016/MONDO:0007750/013/ci/CA040016/MONDO:0007750/013.002",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "There is one other variant in the same codon: LDLR: NM_000527:c.2374A>T (p.Ile792Phe) is classified as Uncertain significance - insufficient evidence by these guidelines. Therefore PM5 is not met.",
                        "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": "CA040016/MONDO:0007750/013/ci/CA040016/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013/0/1780",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA040016/MONDO:0007750/013",
    "metadata": {
      "created": "2024-09-28T01:05:17.204Z",
      "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 01:05:17 -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": "08edf0a6-3b51-4484-b172-bc1e18ae8e44",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA040016",
      "id": "CAR:CA040016",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000527.5:c.2375T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-08-18T08:06:36.349Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}