Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059640 | SCV001224269 | pathogenic | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2640*) 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 (rs527236066, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 18836446, 25753737, 27658286). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 143112). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074415 | SCV001239997 | pathogenic | Retinal dystrophy | 2019-08-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000678571 | SCV004195228 | pathogenic | Retinitis pigmentosa 25 | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV001074415 | SCV004707420 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132633 | SCV000172584 | pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678571 | SCV000804650 | pathogenic | Retinitis pigmentosa 25 | 2016-09-01 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000132633 | SCV001453308 | pathogenic | Retinitis pigmentosa | 2020-09-16 | no assertion criteria provided | clinical testing |