ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)

dbSNP: rs1064797181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488268 SCV000574964 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Rui Chen Lab, Baylor College of Medicine RCV000515728 SCV000579416 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261180 SCV001438579 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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