Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001199685 | SCV001162499 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Invitae | RCV001234571 | SCV001407223 | pathogenic | not provided | 2023-09-21 | 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: 813177). 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.Ile1935Tyrfs*6) 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). |
Baylor Genetics | RCV001836061 | SCV004195288 | likely pathogenic | Retinitis pigmentosa 25 | 2023-05-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001836061 | SCV002084342 | pathogenic | Retinitis pigmentosa 25 | 2020-10-08 | no assertion criteria provided | clinical testing |