ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)

gnomAD frequency: 0.00014  dbSNP: rs372190684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114194 SCV000147747 uncertain significance Meckel-Gruber syndrome 2013-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636999 SCV000758447 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831902 SCV002094260 likely benign Leber congenital amaurosis 2020-02-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004542807 SCV004767659 likely benign CEP290-related disorder 2022-10-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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