ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1477-11del (rs397516518)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036703 SCV000234985 benign not specified 2012-04-07 criteria provided, single submitter clinical testing The variant is found in ARVC, CPVT panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036703 SCV000060358 likely benign not specified 2011-09-16 criteria provided, single submitter clinical testing 1477-11delT in intron 15 of RYR2: This variant is not expected to have clinical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a polyT stretch. This variant has be en reported in dbSNP (rs60132900 & rs5781961) without frequency information.

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.