ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) (rs878853350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000225657 SCV001239377 pathogenic Retinal dystrophy 2018-04-18 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001003018 SCV001950258 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Trp2046Ter 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, PP1. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225657 SCV000282554 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003018 SCV001161073 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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