Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613385 | SCV000712192 | uncertain significance | not specified | 2016-06-09 | criteria provided, single submitter | clinical testing | The p.Pro567Ser variant in exon 18 of USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Pro567Ser variant is uncertain. |