ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)

dbSNP: rs112738303
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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 RCV000915073 SCV001060268 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272018 SCV001453646 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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