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

Total submissions: 9

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