ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)

gnomAD frequency: 0.00003  dbSNP: rs772125105
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002528359 SCV000637497 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-15 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845473 SCV000987566 uncertain significance not provided criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189675 SCV001357015 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193936 SCV001363114 likely benign not specified 2019-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000845473 SCV001944386 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420413 SCV002676431 likely benign Cardiovascular phenotype 2020-05-06 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.
All of Us Research Program, National Institutes of Health RCV003999092 SCV004820322 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-01-11 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.