ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)

gnomAD frequency: 0.00032  dbSNP: rs191613017
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178636 SCV000230752 benign not specified 2015-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178636 SCV000246997 uncertain significance not specified 2015-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001697163 SCV000533779 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000637007 SCV000758455 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272011 SCV001453639 benign Leber congenital amaurosis 2019-11-11 no assertion criteria provided clinical testing

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