Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615483 | SCV000712327 | uncertain significance | not specified | 2016-08-02 | criteria provided, single submitter | clinical testing | The p.Arg947Cys variant in MYH14 has not been previously reported in individuals with hearing loss, but has been identified in 1/8084 European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs75 7658628). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive e nough to determine pathogenicity. In summary, the clinical significance of the p .Arg947Cys variant is uncertain. |
Baylor Genetics | RCV001331337 | SCV001523360 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 4A | 2019-02-22 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |