ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13476+16A>G

gnomAD frequency: 0.60593  dbSNP: rs2256242
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
Eurofins Ntd Llc (ga) RCV000079376 SCV000111247 benign not specified 2013-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079376 SCV000306030 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001650904 SCV001864049 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795084 SCV002033038 benign Arrhythmogenic right ventricular dysplasia 2 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001842424 SCV002033039 benign Cardiac arrhythmia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795085 SCV002033041 benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001795085 SCV002425878 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650904 SCV005280803 benign not provided criteria provided, single submitter not provided

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.