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

Total submissions: 15

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	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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
Invitae	RCV001517495	SCV001726004	benign	Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12	2020-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001689595	SCV001912509	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25445213, 19863551)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039082	SCV001740170	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics,Academic Medical Center	RCV000039082	SCV001917937	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039082	SCV001928946	benign	not specified		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV000039082	SCV001956787	benign	not specified		no assertion criteria provided	clinical testing