Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213921 | SCV001385577 | pathogenic | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 30718709). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 636025). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Cys78Alafs*7) 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 | RCV003461061 | SCV004195300 | pathogenic | Retinitis pigmentosa 25 | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV000787591 | SCV000926572 | pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |