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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1807907463",
      "label": "ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DYSF Version 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015152",
      "id": "MONDO:0015152",
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/el/0/1738",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/ei/1/1739",
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
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                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
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                          "type": "Agent"
                        },
                        "comments": "At least one of these individuals displayed progressive limb girdle muscle weakness and absent dysferlin on muscle biopsy (PMID: 32528171, MYO-SEQ internal data communication; PP4_Strong).\n",
                        "contributionDate": {
                          "date": "2026/4/10",
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                        },
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1738/1740",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/1/1739",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1738",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/10",
                  "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/CA347220545/MONDO:0015152/180/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.592, which is below the LGMD VCEP threshold of ≥0.70.\n\nSpliceAI Donor Gain\t0.04",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "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": "CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/ei/1/1718",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/10",
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                },
                "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/CA347220545/MONDO:0015152/180/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
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                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "This variant has been reported in at least two patients with features consistent with LGMD (PMID: 33927379, 32528171; LOVD DYSF_001234), where it was identified in unconfirmed phase with a pathogenic variant in both (NM_003494.4: c.797G>A (p.Gly266Glu), 0.5 pts, MYO-SEQ internal data communication, PMID: 32528171; c.799_800del p.(Phe267LeufsTer5), 0.5 pts, PMID: 33927379, LOVD Individuals #00327046 and #0032760) (PM3). \n\nCurated variant is absent from gnomAD, so co-occurrence could not be assessed.\n\nno other cases available\n",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "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": "CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/el/0/1780",
        "evidenceItem": [
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            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
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                "contributionDate": {
                  "date": "2026/4/10",
                  "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/CA347220545/MONDO:0015152/180/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "no other missense changes at this position seem to have been reported.",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1780",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/10",
                  "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": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220545/MONDO:0015152/180/el/0/1636/1638",
                "evidenceItem": [
                  {
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                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v.4.1.0, meeting the criteria for PM2_Supporting.\n",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "description": "Date on which this evidence was provided"
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220545/MONDO:0015152/180/ci/CA347220545/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA347220545/MONDO:0015152/180",
    "metadata": {
      "created": "2026-04-10T19:19:52.138Z",
      "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, 10 Apr 2026 19:19:52 -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": "5ff7b1e4-45d3-413a-913a-597c64caa713",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA347220545",
      "id": "CAR:CA347220545",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.5132C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.5132C>T (p.Ser1711Phe)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T02:48:57.968Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}