Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001849952 | SCV002160951 | pathogenic | not provided | 2023-03-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 143101). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 26155838, 28763560). This sequence change creates a premature translational stop signal (p.Glu584*) 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 | RCV003462050 | SCV004195314 | pathogenic | Retinitis pigmentosa 25 | 2023-04-07 | criteria provided, single submitter | clinical testing | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132622 | SCV000172573 | probable-pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |