ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.490+11A>C

gnomAD frequency: 0.00076  dbSNP: rs200740893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523487 SCV001733197 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709064 SCV005232663 benign not provided criteria provided, single submitter not provided

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