ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) (rs41315858)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000036770 SCV000050833 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036770 SCV000060425 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Allele frequency = 2.4% (n=160 alleles), EA cohort, NHLBI ESP.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036770 SCV000229858 benign not specified 2014-11-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238788 SCV000296978 benign Catecholaminergic polymorphic ventricular tachycardia 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246866 SCV000317991 benign Cardiovascular phenotype 2015-03-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV001093881 SCV000356321 benign Arrhythmogenic right ventricular dysplasia, familial, 2 2017-05-11 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001093880 SCV000356322 benign Catecholaminergic polymorphic ventricular tachycardia type 1 2017-05-11 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV000238788 SCV000554561 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000776019 SCV000910582 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000036770 SCV001159077 benign not specified 2018-07-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000036770 SCV001433187 benign not specified 2020-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030425 SCV000053094 benign Arrhythmogenic right ventricular cardiomyopathy 2014-11-10 no assertion criteria provided clinical testing

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