Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825984 | SCV000967472 | uncertain significance | not specified | 2019-02-05 | criteria provided, single submitter | clinical testing | The p.Lys879Thr variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4. |
Natera, |
RCV001825686 | SCV002086633 | uncertain significance | Usher syndrome type 1B | 2021-03-28 | no assertion criteria provided | clinical testing |