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                "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA005196/MONDO:0005045/099/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA005196/MONDO:0005045/099/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076",
                  "id": "CG-PCER-AGENT:CG_50002_EP155190197442076",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/11/14",
                  "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/CA005196/MONDO:0005045/099/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA005196/MONDO:0005045/099/ci/CA005196/MONDO:0005045/099.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076",
                          "id": "CG-PCER-AGENT:CG_50002_EP155190197442076",
                          "type": "Agent"
                        },
                        "comments": "Absent in gnomad (2.1 and 4.1)",
                        "contributionDate": {
                          "date": "2025/11/14",
                          "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": "CA005196/MONDO:0005045/099/ci/CA005196/MONDO:0005045/099.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA005196/MONDO:0005045/099/el/0/1825",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA005196/MONDO:0005045/099/ei/1/1826",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076",
                  "id": "CG-PCER-AGENT:CG_50002_EP155190197442076",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/11/14",
                  "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/CA005196/MONDO:0005045/099/el/0/1825/1827",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA005196/MONDO:0005045/099/ci/CA005196/MONDO:0005045/099.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076",
                          "id": "CG-PCER-AGENT:CG_50002_EP155190197442076",
                          "type": "Agent"
                        },
                        "comments": "In vitro and in vivo functional studies provide some evidence that this variant affected protein function (PS3_Moderate; Thierfelder 1994 PMID: 8205619, Watkins 1996 PMID: 8958207, Tardiff 1998 PMID: 9637714, Mukherjea 1999 PMID: 10529204, Szczesna 2000 PMID: 10617660, Gafurov 2004 PMID: 15568820, Becker 2011 PMID: 21245263)",
                        "contributionDate": {
                          "date": "2025/11/14",
                          "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": "CA005196/MONDO:0005045/099/ci/CA005196/MONDO:0005045/099.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/0/1825/1827",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/1/1826",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099/0/1825",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA005196/MONDO:0005045/099",
    "metadata": {
      "created": "2025-11-14T19:04:42.744Z",
      "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, 14 Nov 2025 19:04:42 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "1d86a007-768b-4b8c-be66-f13fd8f5d403",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA005196",
      "id": "CAR:CA005196",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001276345.2:c.851+1G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001276345.2(TNNT2):c.851+1G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-14T22:54:43.748Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}