ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2928C>T (p.Tyr976=)

dbSNP: rs1393060819
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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 RCV000934641 SCV001080368 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275026 SCV001459779 uncertain significance Leber congenital amaurosis 2020-01-24 no assertion criteria provided clinical testing

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