Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156679 | SCV000206400 | uncertain significance | not specified | 2014-09-04 | criteria provided, single submitter | clinical testing | The Ile108Val variant in OTOF has not been previously reported in individuals wi th hearing loss and was absent from large population studies. Computational pred iction tools and conservation analysis do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of the Ile10 8Val variant is uncertain. |
Invitae | RCV003546484 | SCV004271130 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing |