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

gnomAD frequency: 0.00039  dbSNP: rs371931287

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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	RCV002513444	SCV000637633	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768779	SCV000900149	likely benign	Cardiomyopathy	2020-07-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	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
CeGaT Center for Human Genetics Tuebingen	RCV001528614	SCV004126220	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7
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