ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.251-10A>T (rs190383141)

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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 RCV000712033 SCV000842447 benign not provided 2018-02-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000114188 SCV000202424 benign not specified 2014-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000114188 SCV000512567 benign not specified 2016-09-20 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 RCV000114188 SCV000147741 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 RCV000361740 SCV000381647 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264694 SCV000381648 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322239 SCV000381649 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383789 SCV000381650 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272783 SCV000381651 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234281 SCV000290911 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-12-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114188 SCV000314532 benign not specified criteria provided, single submitter clinical testing

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