Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001911262 | SCV002160188 | pathogenic | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys3180Valfs*37) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV003389502 | SCV003927079 | pathogenic | Usher syndrome | 2022-12-31 | criteria provided, single submitter | research | |
Genome- |
RCV003452070 | SCV004182678 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |