ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2562A>G (p.Thr854=) (rs727503398)

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
Invitae RCV000467049 SCV000554618 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-11-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151757 SCV000200145 likely benign not specified 2013-04-04 criteria provided, single submitter clinical testing Thr854Thr in exon 22 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr854Thr in exon 22 of RYR2 (allele frequenc y = n/a)

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.