Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151607 | SCV000199792 | uncertain significance | not specified | 2014-08-19 | criteria provided, single submitter | clinical testing | The Lys750Glu variant in OTOF has not been previously reported in individuals wi th hearing loss or in large population studies. Computational prediction tools a nd conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Lys60Glu variant is uncertain. |
Invitae | RCV003764924 | SCV004616502 | likely benign | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing |