{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/0f97b706-2a00-4fce-8bbe-6744fe0a63bc/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0019501",
      "id": "MONDO:0019501",
      "label": "Usher syndrome",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2020/5/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0080",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0080",
              "label": "BP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA1394924/MONDO:0019501/005/ci/CA1394924/MONDO:0019501/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "Residue is not highly conserved and no splicing impact predicted by MaxEntScan and other splicing predictors in Alamut.",
                        "contributionDate": {
                          "date": "2020/5/26",
                          "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": "CA1394924/MONDO:0019501/005/ci/CA1394924/MONDO:0019501/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/el/0/1750",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/ei/1/1751",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2020/5/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0086",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0086",
              "label": "BS1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/el/0/1750/1752",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA1394924/MONDO:0019501/005/ci/CA1394924/MONDO:0019501/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "The filtering AF (95% CI) is 0.22% (57/19928) of East Asian chromosomes in gnomAD v2.1.1 and 0.22% (12/3114) of South Asian chromosomes in gnomAD v3.",
                        "contributionDate": {
                          "date": "2020/5/26",
                          "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": "CA1394924/MONDO:0019501/005/ci/CA1394924/MONDO:0019501/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/0/1750/1752",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/1/1751",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/0/1750",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2020/5/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0079",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0079",
              "label": "BP7",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1394924/MONDO:0019501/005/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA1394924/MONDO:0019501/005/ci/CA1394924/MONDO:0019501/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "no splicing impact predicted by MaxEntScan and other splicing predictors in Alamut.",
                        "contributionDate": {
                          "date": "2020/5/26",
                          "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": "CA1394924/MONDO:0019501/005/ci/CA1394924/MONDO:0019501/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005/0/1654",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA1394924/MONDO:0019501/005",
    "metadata": {
      "created": "2024-09-27T20:49:18.305Z",
      "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, 27 Sep 2024 20:49:18 -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": "0f97b706-2a00-4fce-8bbe-6744fe0a63bc",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA1394924",
      "id": "CAR:CA1394924",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_206933.3:c.7167C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_206933.3(USH2A):c.7167C>T (p.Ser2389=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T02:37:21.303Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}