ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11246-11del (rs397516503)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036658 SCV000060313 uncertain significance not specified 2012-01-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 11246-11delA va riant (RYR2) has not been reported in the literature nor previously identified b y our laboratory. This variant located in the 3' splice region, but does not alt er the invariant -1 or -2 positions. Computational tools to not predict altered splicing, though the accuracy of these tools is unknown. Although this variant is likely to be benign, additional studies are needed to fully assess its clinic al significance.
PreventionGenetics,PreventionGenetics RCV000036658 SCV000306021 likely benign not specified criteria provided, single submitter clinical testing
Color RCV000777963 SCV000914064 benign Cardiomyopathy 2018-10-16 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.