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      "label": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
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    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0700268",
      "id": "MONDO:0700268",
      "label": "BRCA1-related cancer predisposition",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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                  "label": "curator role",
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                "type": "Contribution"
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            ],
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              "@id": "https://obofoundry.org/sepio/clingen/0020",
              "defaultStrength": {
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                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
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              "id": "0020",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/el/0/1762/1764",
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            ],
            "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/1/1763",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1762",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/el/0/1648",
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            "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/ei/1/1649",
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                  "label": "curator role",
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              "@id": "https://obofoundry.org/sepio/clingen/0023",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
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              "id": "0023",
              "label": "PP1",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/el/0/1648/1650",
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                        "comments": "Cosegregation analysis of family(ies) carrying this variant provided evidence towards pathogenicity, and has a Bayes Score of 48.83, within the thresholds for strong pathogenic evidence (LR >18.7 & ≤350) (PP1_Strong met; PMID: 32745242 and internal lab contributors).",
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                          "date": "2024/6/11",
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                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10584575/MONDO:0700268/092/ci/CA10584575/MONDO:0700268/092.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1648/1650",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/1/1649",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1648",
        "type": "EvidenceLine"
      },
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        "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/ei/1/1799",
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0011",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0011",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/el/0/1798/1800",
                "evidenceItem": [
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                          "type": "Agent"
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                        "comments": "This deletion variant was not observed in gnomAD v2.1 (exomes only, non-cancer subset) or gnomAD v3.1 (non-cancer subset), but PM2_Supporting was not applied since recall is suboptimal for this type of variant (PM2_Supporting not met). ",
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                          "description": "Date on which this evidence was provided"
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                "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1798/1800",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1798",
        "type": "EvidenceLine"
      },
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        "evidenceItem": [
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            "contribution": [
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                  "description": "Date on which this evidence was provided"
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://genboree.org/evrepo/api/interpretation/CA10584575/MONDO:0700268/092/el/0/1831/1833",
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                        "comments": "Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 4.83 (based on Pathology LR=4.83), within the thresholds for Moderate evidence towards pathogenicity (LR >4.3 & ≤18.7) (PP4_Moderate met; Internal lab contributors). \n",
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                          "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"
                      }
                    ],
                    "id": "CA10584575/MONDO:0700268/092/ci/CA10584575/MONDO:0700268/092.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1831/1833",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092/0/1831",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10584575/MONDO:0700268/092",
    "metadata": {
      "created": "2024-09-23T22:24:27.873Z",
      "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": "Mon, 23 Sep 2024 22:24:27 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "476a47b3-617d-44fa-a8d1-155d588f2b48",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10584575",
      "id": "CAR:CA10584575",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_007294.4:c.442-22_442-13del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_007294.4(BRCA1):c.442-22_442-13del"
        }
      ],
      "type": "CAR"
    }
  },
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    "rendered": {
      "by": "https://genboree.org/evrepo/api/summarysrvc",
      "when": "2026-05-27T18:25:09.824Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}