ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)

gnomAD frequency: 0.06110  dbSNP: rs3766871
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000036771 SCV000050832 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036771 SCV000060426 benign not specified 2011-11-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036771 SCV000111253 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036771 SCV000306064 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249038 SCV000317771 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV001093882 SCV000356323 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000265774 SCV000356324 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001093882 SCV000554555 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-01 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000036771 SCV000740441 benign not specified 2016-07-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000030426 SCV000902590 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001642246 SCV001158943 benign not provided 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001642246 SCV001861129 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25773045, 30403697, 27153395, 27663074, 18326664, 19926015, 20408814, 24025405)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030426 SCV000053095 benign Cardiomyopathy 2013-03-01 no assertion criteria provided 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.