ClinVar Miner

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

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Total submissions: 10
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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 benign Naxos disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000351947 SCV000402701 benign Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000039075 SCV000740577 benign not specified 2016-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039075 SCV001156888 benign not specified 2018-07-05 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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