ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3420A>G (p.Lys1140=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002666624 SCV002973979 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-28 criteria provided, single submitter clinical testing

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