ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=)

gnomAD frequency: 0.00001  dbSNP: rs281865294
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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 RCV001426946 SCV001629613 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-09-03 criteria provided, single submitter clinical testing
Retina International RCV000086254 SCV000118400 not provided not provided no assertion provided not provided

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