ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1884T>C (p.Phe628=)

gnomAD frequency: 0.00001  dbSNP: rs200491247
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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 RCV001460407 SCV001664275 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-13 criteria provided, single submitter clinical testing

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