Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611534 | SCV000731823 | uncertain significance | not specified | 2017-08-10 | criteria provided, single submitter | clinical testing | The p.Asn506Asp variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computatio nal prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of t he p.Asn506Asp variant is uncertain. |
Department Of Genetics, |
RCV002284967 | SCV002574743 | uncertain significance | Usher syndrome type 1C | 2022-06-30 | criteria provided, single submitter | clinical testing |