{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/82e1ee8f-0d68-4d27-9112-f8370590e4ea/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529292791",
      "label": "ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0021057",
      "id": "MONDO:0021057",
      "label": "classic or attenuated familial adenomatous polyposis",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2697546419/MONDO:0021057/089/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2697546419/MONDO:0021057/089/ei/1/1595",
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                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                  "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/19",
                  "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/CA2697546419/MONDO:0021057/089/el/0/1594/1596",
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                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2025/5/19",
                          "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": "CA2697546419/MONDO:0021057/089/ci/CA2697546419/MONDO:0021057/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2697546419/MONDO:0021057/089/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2697546419/MONDO:0021057/089/ei/1/1703",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                  "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/19",
                  "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/CA2697546419/MONDO:0021057/089/el/0/1702/1704",
                "evidenceItem": [
                  {
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
                        "comments": "The variant has been reported in one individual without a colorectal cancer/polyposis associated phenotype not meeting criteria for BS2 (BS2 not met; Ambry internal data). ",
                        "contributionDate": {
                          "date": "2025/5/19",
                          "description": "Date on which this evidence was provided"
                        },
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA2697546419/MONDO:0021057/089/ci/CA2697546419/MONDO:0021057/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/0/1702",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2697546419/MONDO:0021057/089/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2697546419/MONDO:0021057/089/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                  "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/19",
                  "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/CA2697546419/MONDO:0021057/089/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2697546419/MONDO:0021057/089/ci/CA2697546419/MONDO:0021057/089.002",
                    "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"
                        },
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                        "contributionDate": {
                          "date": "2025/5/19",
                          "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": "CA2697546419/MONDO:0021057/089/ci/CA2697546419/MONDO:0021057/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2697546419/MONDO:0021057/089",
    "metadata": {
      "created": "2025-05-19T16:31:35.012Z",
      "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, 19 May 2025 16:31:34 -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": "82e1ee8f-0d68-4d27-9112-f8370590e4ea",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2697546419",
      "id": "CAR:CA2697546419",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000038.6:c.8488dup"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000038.6(APC):c.8488dup (p.Ser2830fs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T09:32:58.622Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}