Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047737 | SCV001211717 | pathogenic | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys1001*) 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 present in population databases (no rsID available, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with EYS-related conditions (PMID: 20333770, 21519034). ClinVar contains an entry for this variant (Variation ID: 844797). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001073224 | SCV001238760 | likely pathogenic | Retinal dystrophy | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001827300 | SCV004195296 | pathogenic | Retinitis pigmentosa 25 | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001827300 | SCV002084434 | pathogenic | Retinitis pigmentosa 25 | 2021-04-15 | no assertion criteria provided | clinical testing |