ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) (rs371931287)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036806 SCV000060461 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr3173Thr in exon 67 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (7/6660) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Thr3173Thr in exon 67 of RYR2 (al lele frequency = 0.1%, 7/6660) **
Ambry Genetics RCV000242457 SCV000318986 likely benign Cardiovascular phenotype 2015-10-27 criteria provided, single submitter clinical testing
Invitae RCV000537455 SCV000637633 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768779 SCV000900149 likely benign Cardiomyopathy 2016-09-14 criteria provided, single submitter clinical testing
Color RCV000768779 SCV000913840 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000036806 SCV001361033 benign not specified 2019-12-23 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.