Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216576 | SCV000272004 | uncertain significance | not specified | 2015-02-25 | criteria provided, single submitter | clinical testing | The p.Arg1305His variant in MYH14 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Arg1305His variant is uncertain. |