ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2055T>C (p.Ala685=) (rs45465996)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000086281 SCV000842445 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082245 SCV000114194 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000082245 SCV000167669 benign not specified 2014-01-31 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 RCV000082245 SCV000147738 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.
Illumina Clinical Services Laboratory,Illumina RCV000276593 SCV000381562 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331901 SCV000381563 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367857 SCV000381564 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263774 SCV000381565 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318998 SCV000381566 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082245 SCV000314525 benign not specified criteria provided, single submitter clinical testing
Retina International RCV000086281 SCV000118427 not provided not provided no assertion provided not provided

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