Submissions for variant NM_001035.3(RYR2):c.5136C>T (p.Ser1712=)

gnomAD frequency: 0.00001  dbSNP: rs397516540

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036763	SCV000060418	likely benign	not specified	2012-07-31	criteria provided, single submitter	clinical testing	Ser1712Ser in exon 37 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. Ser1712Ser in exon 37 of RYR2 (allele frequ ency = n/a)
Ambry Genetics	RCV000248582	SCV000320264	likely benign	Cardiovascular phenotype	2015-10-02	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	RCV002513429	SCV000554617	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-11-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001192360	SCV001360411	likely benign	Cardiomyopathy	2019-06-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221790	SCV003916570	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BS2