ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2854del (p.Cys952fs)

dbSNP: rs779877426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001731169 SCV001981606 pathogenic Retinitis pigmentosa 2021-10-20 criteria provided, single submitter clinical testing additional variant: c.9053T>G, p.Leu3018Trp, classified as VUS

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