Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074342 | SCV001239917 | likely pathogenic | Retinal dystrophy | 2019-07-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387925 | SCV001588682 | pathogenic | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr988*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 866396). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003462630 | SCV004193569 | likely pathogenic | Retinitis pigmentosa 25 | 2022-08-26 | criteria provided, single submitter | clinical testing |