ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1152-65G>A

gnomAD frequency: 0.34499  dbSNP: rs3748357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001642156 SCV001861127 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796644 SCV002033749 benign Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796645 SCV002033751 benign Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001642156 SCV005232671 benign not provided criteria provided, single submitter not provided

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