Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001449711 | SCV001652967 | uncertain significance | not specified | 2020-06-04 | criteria provided, single submitter | clinical testing | The p.Ile1890Phe variant in CDH23 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 analyses 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. |
Natera, |
RCV001278270 | SCV001465268 | uncertain significance | Usher syndrome type 1 | 2020-08-14 | no assertion criteria provided | clinical testing |