ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2235C>T (p.Phe745=)

gnomAD frequency: 0.00001  dbSNP: rs767808334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002102167 SCV002322810 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-23 criteria provided, single submitter clinical testing

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