ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) (rs11104738)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000114189 SCV000167671 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.
PreventionGenetics,PreventionGenetics RCV000114189 SCV000314534 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297354 SCV000381537 benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361526 SCV000381538 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391116 SCV000381539 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303241 SCV000381540 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357993 SCV000381541 benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000086982 SCV001000321 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086982 SCV000119235 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000114189 SCV000147742 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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