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    "assertionMethod": {
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      "label": "ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
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      "id": "MONDO:0013699",
      "label": "colorectal cancer, hereditary nonpolyposis, type 4",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "evidenceItem": [
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                },
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                },
                "contributionRole": {
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                  "label": "curator role",
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                "type": "Contribution"
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                        "contributionDate": {
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                        },
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                    ],
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                ],
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                "type": "EvidenceLine"
              }
            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA013438/MONDO:0013699/139/0/1762",
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                "contributionDate": {
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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                "type": "Contribution"
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            ],
            "evidenceLine": [
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                          "type": "Agent"
                        },
                        "comments": "detected in at least 2 independent CRC/Endometrial MSI-H tumours using a standard panel of 5-10 markers and/or loss of MMR protein expression consistent with the variant location.",
                        "contributionDate": {
                          "date": "2024/10/17",
                          "description": "Date on which this evidence was provided"
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                        "contributionRole": {
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                      }
                    ],
                    "id": "CA013438/MONDO:0013699/139/ci/CA013438/MONDO:0013699/139.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA013438/MONDO:0013699/139/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA013438/MONDO:0013699/139/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA013438/MONDO:0013699/139/0/1831",
        "type": "EvidenceLine"
      },
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        "evidenceItem": [
          {
            "@id": "https://genboree.org/evrepo/api/interpretation/CA013438/MONDO:0013699/139/ei/1/1637",
            "contribution": [
              {
                "agent": {
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                  "id": "CG-PCER-AGENT:CG_50099_EP168627586589582",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/10/17",
                  "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"
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                        },
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                        "contributionDate": {
                          "date": "2024/10/17",
                          "description": "Date on which this evidence was provided"
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                        },
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA013438/MONDO:0013699/139/0/1636/1638",
                "type": "EvidenceLine"
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            ],
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            "statementOutcome": {
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            },
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          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA013438/MONDO:0013699/139/0/1636",
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    "metadata": {
      "created": "2024-10-17T00:39:19.423Z",
      "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": "Thu, 17 Oct 2024 00:39:19 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
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    },
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      "id": "LN:LA26332-9",
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    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "71e03c69-957f-4ab5-b5e3-096244624d40",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA013438",
      "id": "CAR:CA013438",
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        {
          "alleleName": [
            {
              "name": "NM_000535.7:c.989-2A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000535.7(PMS2):c.989-2A>G"
        }
      ],
      "type": "CAR"
    }
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    "rendered": {
      "by": "https://genboree.org/evrepo/api/summarysrvc",
      "when": "2026-06-21T04:39:28.641Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}