ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs)

dbSNP: rs587783012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Vision Research, Yonsei University College of Medicine RCV001262111 SCV001371686 pathogenic Leber congenital amaurosis 2020-07-08 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144463 SCV000189597 pathogenic Leber congenital amaurosis 6 2014-09-18 no assertion criteria provided clinical testing

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