ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.763C>T (p.Leu255=)

gnomAD frequency: 0.00001  dbSNP: rs1659649148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413789 SCV001615909 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831460 SCV002090117 likely benign Leber congenital amaurosis 2021-05-24 no assertion criteria provided clinical testing

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