ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) (rs201081663)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182641 SCV000235015 likely benign not specified 2016-04-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000234159 SCV000285756 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000182641 SCV000740450 likely benign not specified 2017-05-21 criteria provided, single submitter clinical testing
Color RCV001191841 SCV001359755 likely benign Cardiomyopathy 2018-11-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157463 SCV000207207 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-04-17 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.