Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001701433 | SCV003328534 | pathogenic | not provided | 2022-03-10 | 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: 560453). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln35*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678561 | SCV000804640 | pathogenic | Retinitis pigmentosa 25 | 2016-09-01 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV001701433 | SCV001922284 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001701433 | SCV001958705 | pathogenic | not provided | no assertion criteria provided | clinical testing |