Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223561 | SCV001395717 | pathogenic | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with USH2A-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu5124Argfs*11) in the USH2A gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002497762 | SCV002811206 | likely pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-10-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449706 | SCV004182808 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449705 | SCV004182819 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003449706 | SCV004206373 | likely pathogenic | Retinitis pigmentosa 39 | 2022-12-02 | criteria provided, single submitter | clinical testing |