ClinVar Miner

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

gnomAD frequency: 0.03910  dbSNP: rs41283425
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Total submissions: 18
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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, Mass General Brigham Personalized Medicine RCV000039082 SCV000062760 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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: seen in unaffected individuals, 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.
Eurofins Ntd Llc (ga) RCV000039082 SCV000341089 benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Laboratory Services, Illumina RCV000578075 SCV000402757 benign Arrhythmogenic right ventricular dysplasia 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 dysplasia 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001517495 SCV001726004 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-02-01 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)
Breakthrough Genomics, Breakthrough Genomics RCV001689595 SCV005212751 likely benign not provided criteria provided, single submitter not provided
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039082 SCV001956787 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039082 SCV001970275 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003125874 SCV003802972 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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