{
  "url": "https://dantelabs.com/genes/myo7a/variants/e968d",
  "gene": {
    "slug": "myo7a",
    "symbol": "MYO7A",
    "hgnc": "HGNC:7606",
    "url": "https://dantelabs.com/genes/myo7a"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "myo7a",
      "symbol": "MYO7A",
      "hgnc": "HGNC:7606"
    },
    "slug": "e968d",
    "name": "E968D",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-16-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-16"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "glu968asp",
      "c-2904g-t",
      "rs111033233",
      "ca278647"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA278647",
      "rsIds": [
        "rs111033233"
      ],
      "clinvarVariationId": 43196,
      "vcv": "VCV000043196",
      "clinvarAlleleId": 52366
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "11",
        "pos": 77181589,
        "ref": "G",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "11",
        "pos": 76892635,
        "ref": "G",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000260.4",
      "maneSelect": true,
      "hgvsC": "c.2904G>T",
      "hgvsP": "p.Glu968Asp",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0700087",
        "name": "Usher syndrome type 1B",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000043196",
        "submissions": 1,
        "lastEvaluated": "2022-08-03",
        "expertPanel": "ClinGen Hearing Loss Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "usher-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0019501",
            "name": "Usher Syndrome",
            "inheritance": "autosomal-recessive"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "usher-syndrome",
      "name": "Usher Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0019501",
          "name": "Usher Syndrome",
          "inheritance": "autosomal-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/usher-syndrome"
    }
  ]
}