Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155645 | SCV000205354 | uncertain significance | not specified | 2015-02-26 | criteria provided, single submitter | clinical testing | The p.Arg116His variant in KCNQ1 has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analyses do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Arg116His vari ant is uncertain. |