ClinVar Miner

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

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Total submissions: 10
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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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000537455 SCV000637633 benign Catecholaminergic polymorphic ventricular tachycardia 2020-10-28 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 Health, Inc RCV000768779 SCV000913840 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036806 SCV001361033 benign not specified 2019-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001528614 SCV001751057 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528614 SCV001740613 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000036806 SCV001918300 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528614 SCV001926817 likely benign not provided no assertion criteria provided clinical testing

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