Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics, |
RCV000851574 | SCV000986690 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2019-08-28 | no assertion criteria provided | research | The patient with congenital NSHL carried the reported single nonsense variant as well as single frameshift variant in MYO15A. They were segregated with the disease in his family and patient was a sporadic case in it. NSHL carried by the patient was categorized as a type of severe and profound hearing loss based on audiogram. |