ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1942G>A (p.Val648Ile) (rs143043662)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248914 SCV000318647 benign Cardiovascular phenotype 2015-05-11 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039072 SCV000051545 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769487 SCV000900882 likely benign Cardiomyopathy 2017-08-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514183 SCV000609669 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV000229486 SCV000287309 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039072 SCV000062750 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Val648Ile in exon 12 of JUP: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (98/6744) of European (Finnish) chromosomes and 1.1% (760/67702) of European (Non-Finnish) chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14304 3662).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000039072 SCV000740580 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000039072 SCV000313864 benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.