Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075429 | SCV001241052 | likely pathogenic | Retinal dystrophy | 2018-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001388448 | SCV001589446 | pathogenic | not provided | 2023-05-17 | 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: 866986). 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.Glu3730Glyfs*20) 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- |
RCV003455413 | SCV004182131 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003455413 | SCV004200732 | likely pathogenic | Retinitis pigmentosa 39 | 2023-04-20 | criteria provided, single submitter | clinical testing |