Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222908 | SCV000271817 | uncertain significance | not specified | 2016-03-31 | criteria provided, single submitter | clinical testing | The p.Asp102Gly variant in GPR98 has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to asses s the frequency of this variant. Computational prediction tools and conservation analysis suggest that the p.Asp102Gly variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp102Gly variant is uncertain. |