Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000616738 | SCV000712596 | uncertain significance | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | The p.Gly4401Val variant in USH2A has not been previously reported in individual s with hearing loss or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Gly4401Val variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Gly4401Val variant is unc ertain. |
Natera, |
RCV001835877 | SCV002088274 | uncertain significance | Usher syndrome type 2A | 2021-09-10 | no assertion criteria provided | clinical testing |