Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195359 | SCV001365705 | uncertain significance | not specified | 2020-01-22 | criteria provided, single submitter | clinical testing | The p.Gln5663His variant in ADGRV1 has not been previously reported in individuals with Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3. |