ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.425G>A (p.Arg142His) (rs41283425)

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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 RCV000039082 SCV000051546 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039082 SCV000062760 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039082 SCV000313870 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253234 SCV000317566 benign Cardiovascular phenotype 2015-07-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039082 SCV000341089 benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372432 SCV000402756 likely benign Naxos disease 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000578075 SCV000402757 benign Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-13 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.
Phosphorus, Inc. RCV000578075 SCV000679868 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-08-01 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000039082 SCV000740578 benign not specified 2016-05-17 criteria provided, single submitter clinical testing

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