ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=)

gnomAD frequency: 0.00689  dbSNP: rs35592908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878297 SCV001021178 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000878297 SCV002809299 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707462 SCV005232683 benign not provided criteria provided, single submitter not provided

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