ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3599-9del

dbSNP: rs11331089
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036734 SCV000060389 likely benign not specified 2011-09-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036734 SCV000111252 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000036734 SCV000234993 benign not specified 2012-07-12 criteria provided, single submitter clinical testing The variant is found in ARVC, POSTMORTEM, CPVT panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002513262 SCV002455332 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336097 SCV002619459 likely benign Cardiovascular phenotype 2015-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030420 SCV000053089 benign Cardiomyopathy 2014-03-04 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036734 SCV001741319 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036734 SCV001925813 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036734 SCV001927357 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036734 SCV001958519 benign not specified no assertion criteria provided 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.