ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

gnomAD frequency: 0.00020  dbSNP: rs184323010
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529924 SCV000634664 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765112 SCV000896334 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002469187 SCV002765810 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001272013 SCV001453641 uncertain significance Leber congenital amaurosis 2020-06-14 no assertion criteria provided clinical testing

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