ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2316A>G (p.Leu772=)

dbSNP: rs964544440
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501586 SCV001706400 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832658 SCV002090175 likely benign Leber congenital amaurosis 2021-06-21 no assertion criteria provided clinical testing

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