Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174711 | SCV000226065 | pathogenic | not provided | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001075263 | SCV001240878 | likely pathogenic | Retinal dystrophy | 2017-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000174711 | SCV001395174 | pathogenic | not provided | 2023-05-31 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 23591405). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 194358). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln732*) 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). |
Broad Center for Mendelian Genomics, |
RCV001723749 | SCV001950271 | likely pathogenic | Retinitis pigmentosa | 2021-04-01 | criteria provided, single submitter | curation | The p.Gln732Ter variant in EYS was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. |
Fulgent Genetics, |
RCV001826878 | SCV002809877 | pathogenic | Retinitis pigmentosa 25 | 2021-12-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001826878 | SCV004195293 | pathogenic | Retinitis pigmentosa 25 | 2023-05-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826878 | SCV002076648 | pathogenic | Retinitis pigmentosa 25 | 2021-04-16 | no assertion criteria provided | clinical testing |