ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=)

gnomAD frequency: 0.00001  dbSNP: rs770273789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002277 SCV001160156 likely benign not specified 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068790 SCV002329200 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-18 criteria provided, single submitter clinical testing

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