ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.240G>A (p.Val80=)

dbSNP: rs2101101070
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799145 SCV002042327 likely benign Cardiomyopathy 2019-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541317 SCV003465781 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339744 SCV004048969 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 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.