ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) (rs7307793)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000114196 SCV000167674 benign not specified 2014-01-30 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 RCV000114196 SCV000147749 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 RCV000376574 SCV000381487 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284366 SCV000381488 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341810 SCV000381489 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380059 SCV000381490 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278319 SCV000381491 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461077 SCV000554517 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-08-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114196 SCV000314549 benign not specified criteria provided, single submitter clinical testing

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