Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156540 | SCV000206259 | uncertain significance | not specified | 2014-06-05 | criteria provided, single submitter | clinical testing | The Val84Ala variant in OTOF has not been previously reported in individuals wit h hearing loss and was absent from large population studies. Computational predi ction tools and conservation analyses suggest that the Val84Ala variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the Val84Ala variant is un certain. |
Invitae | RCV002515025 | SCV002957806 | likely benign | not provided | 2023-12-29 | criteria provided, single submitter | clinical testing |