Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001199573 | SCV001162719 | pathogenic | Usher syndrome type 2 | 2020-01-09 | criteria provided, single submitter | research | |
Invitae | RCV001064224 | SCV001229110 | pathogenic | not provided | 2022-11-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 813108). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly4112Trpfs*41) 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). |
Genome- |
RCV003455051 | SCV004182015 | pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003455051 | SCV004208316 | pathogenic | Retinitis pigmentosa 39 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001827167 | SCV002088312 | pathogenic | Usher syndrome type 2A | 2021-06-11 | no assertion criteria provided | clinical testing |