ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) (rs72549415)

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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 RCV000036730 SCV000050834 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036730 SCV000060385 benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala1136Val in exon 28 of RYR2: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (83/6844 chromosomes) of Europe an American chromosomes from a broad population by the NHBLI exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs72549415).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036730 SCV000228608 benign not specified 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV001082910 SCV000262200 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242051 SCV000317990 benign Cardiovascular phenotype 2015-07-09 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442890 SCV000511837 likely benign not provided 2017-01-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768758 SCV000900128 likely benign Cardiomyopathy 2017-09-21 criteria provided, single submitter clinical testing
Color RCV000768758 SCV000902698 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000768758 SCV000995299 benign Cardiomyopathy 2017-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098855 SCV001255249 benign Catecholaminergic polymorphic ventricular tachycardia type 1 2018-02-09 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 RCV001100666 SCV001257195 likely benign Arrhythmogenic right ventricular dysplasia, familial, 2 2018-02-09 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000036730 SCV001433189 benign not specified 2020-05-28 criteria provided, single submitter clinical testing

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