ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14152-15G>A

gnomAD frequency: 0.00003  dbSNP: rs371785571
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702461 SCV000515842 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191138 SCV001358842 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Invitae RCV002521551 SCV002363719 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000419209 SCV004038026 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000419209 SCV001919717 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702461 SCV001927345 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702461 SCV001954172 likely benign not provided 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.