Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825964 | SCV000967452 | uncertain significance | not specified | 2018-09-06 | criteria provided, single submitter | clinical testing | The p.Arg1999Ser 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 analysis suggest that the p.Arg1999Ser variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Arg1999S er variant is uncertain. ACMG/AMP Criteria applied: BP4, PM2. |