ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)

gnomAD frequency: 0.00016  dbSNP: rs182851622
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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) RCV000591618 SCV000704100 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079405 SCV000758457 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000591618 SCV000980898 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000591618 SCV001334782 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273075 SCV001455662 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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