ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) (rs150138016)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124246 SCV000167673 benign not specified 2014-03-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000372128 SCV000381507 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279934 SCV000381508 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337209 SCV000381509 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375509 SCV000381510 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293222 SCV000381511 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459124 SCV000554511 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124246 SCV000314546 benign not specified criteria provided, single submitter clinical testing

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