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 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279865 SCV000402757 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
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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