Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215948 | SCV000272875 | uncertain significance | not specified | 2015-11-25 | criteria provided, single submitter | clinical testing | The p.Ser82Cys variant in USH1C has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analysis suggest that this variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Ser82Cys variant is uncer tain. |
Counsyl | RCV000671029 | SCV000795967 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-11-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833216 | SCV002087665 | uncertain significance | Usher syndrome type 1C | 2020-12-30 | no assertion criteria provided | clinical testing |