Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610968 | SCV000731442 | uncertain significance | not specified | 2017-03-11 | criteria provided, single submitter | clinical testing | The p.Pro458Leu variant in CDH23 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational p rediction tools and conservation analysis suggest that the p.Pro458Leu variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. In summary, the clinical significance of the p.Pro458Leu var iant is uncertain. |