ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) (rs147371999)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757075 SCV000885168 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000254461 SCV000512569 benign not specified 2016-05-23 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.
Genetic Services Laboratory, University of Chicago RCV000254461 SCV000594066 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Invitae RCV000467887 SCV000554518 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-09-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254461 SCV000314515 benign not specified criteria provided, single submitter clinical testing

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