{
  "data": [
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      "assertionMethod": {
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        "type": "VariantPathogenicityInterpretationGuideline",
        "version": "1.0.0"
      },
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        "id": "MONDO:0005835",
        "label": "Lynch syndrome",
        "type": "GeneticCondition"
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                  "contributionRole": {
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                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "evidenceLine": [
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                            "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                            "type": "Agent"
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                          "comments": "Co-occurrence with truncating variant MSH6 c.3202C>T (p.Arg1068*) in a patient; with CRC and no signs of CMMR-D",
                          "contributionDate": {
                            "date": "2024/10/11",
                            "description": "Date on which this evidence was provided"
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                          "contributionRole": {
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                            "id": "SEPIO:0000516",
                            "label": "curator role",
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                          "type": "Contribution"
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                      ],
                      "id": "CA007963/MONDO:0005835/138/ci/CA007963/MONDO:0005835/138.002",
                      "type": "InfFromBkgrndSciKnow"
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                  ],
                  "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/0/1702/1704",
                  "type": "EvidenceLine"
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              ],
              "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/1/1703",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/0/1702",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA007963/MONDO:0005835/138/el/0/1684",
          "evidenceItem": [
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              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA007963/MONDO:0005835/138/ei/1/1685",
              "contribution": [
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                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                    "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/10/11",
                    "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/CA007963/MONDO:0005835/138/el/0/1684/1686",
                  "evidenceItem": [
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                      "contribution": [
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                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                            "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                            "type": "Agent"
                          },
                          "comments": "Missense variant with MAPP+PolyPhen-2 prior probability for pathogenicity <0.11   (Prior probability = 0.1)",
                          "contributionDate": {
                            "date": "2024/10/11",
                            "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": "CA007963/MONDO:0005835/138/ci/CA007963/MONDO:0005835/138.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/0/1684/1686",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/1/1685",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/0/1684",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA007963/MONDO:0005835/138/el/0/1804",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA007963/MONDO:0005835/138/ei/1/1805",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                    "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/10/11",
                    "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/CA007963/MONDO:0005835/138/el/0/1804/1806",
                  "evidenceItem": [
                    {
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                      "contribution": [
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                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                            "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                            "type": "Agent"
                          },
                          "comments": "Freq gnomAD all non-cancer v2.1.1 = 0.0005888   >  0.00022   but gnomAD v4.1 Grpmax AF = 0.0001535  <\t 0.00022",
                          "contributionDate": {
                            "date": "2024/10/11",
                            "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": "CA007963/MONDO:0005835/138/ci/CA007963/MONDO:0005835/138.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/0/1804/1806",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/1/1805",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Not Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138/0/1804",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA007963/MONDO:0005835/138",
      "metadata": {
        "created": "2024-10-11T05:34:18.140Z",
        "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, 11 Oct 2024 05:34:18 -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": "50ac31d4-b39c-4856-beb7-c69921131dfd",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA007963",
        "id": "CAR:CA007963",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_000179.3:c.107C>T"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_000179.3(MSH6):c.107C>T (p.Ala36Val)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-05T14:54:05.089Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}