ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)

Haploinsufficiency phenotype comments:

Variation in MYO3A has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by severe to profound prelingual onset. Furthermore, the overall evidence that MYO3A, when altered, causes autosomal recessive nonsyndromic deafness was expert reviewed by the ClinGen Hearing Loss Working Group and classified as STRONG.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity