ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1428C>G (p.Thr476=)

dbSNP: rs62636282
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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 RCV001451608 SCV001655244 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275646 SCV001460937 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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