ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.486_490del (p.Gly163fs)

dbSNP: rs1569531639
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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+ RCV000678613 SCV000804700 pathogenic Leber congenital amaurosis 2016-09-01 no assertion criteria provided clinical testing

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