Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152546 | SCV000201757 | uncertain significance | not specified | 2014-06-24 | criteria provided, single submitter | clinical testing | The Pro601Thr variant in USH1C has not been previously reported in individuals w ith hearing loss. Data from large population studies is insufficient to assess t he frequency of this variant. Computational prediction tools and conservation an alyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Pro601Thr variant is uncertain. |
Invitae | RCV000915897 | SCV001061120 | likely benign | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing |