ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2599C>T (p.Arg867Trp)

gnomAD frequency: 0.00181  dbSNP: rs186803989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153850 SCV000203433 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878567 SCV001021490 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-19 criteria provided, single submitter clinical testing

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