ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.957T>C (p.Ser319=)

gnomAD frequency: 0.00001  dbSNP: rs765228022
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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 RCV001417074 SCV001619270 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836015 SCV002090124 likely benign Leber congenital amaurosis 2020-11-24 no assertion criteria provided clinical testing

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