ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1161del (p.Lys387fs)

dbSNP: rs1562154478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678562 SCV000804641 pathogenic Retinitis pigmentosa 25 2016-09-01 no assertion criteria provided clinical testing

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