ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2089A>T (p.Met697Leu) (rs1126821)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039075 SCV000051544 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039075 SCV000062753 benign not specified 2011-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000039075 SCV000169893 benign not specified 2011-08-08 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 RCV000039075 SCV000308772 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251926 SCV000317617 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020467 SCV000402700 likely benign Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351947 SCV000402701 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000039075 SCV000740577 benign not specified 2016-05-16 criteria provided, single submitter clinical testing
GeneReviews RCV000020467 SCV000040899 benign Naxos disease 2008-07-10 no assertion criteria provided curation Converted during submission to Benign.

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