ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2046A>G (p.Thr682=) (rs116098815)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254346 SCV000318814 benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769775 SCV000901199 benign Cardiomyopathy 2017-09-01 criteria provided, single submitter clinical testing
Color RCV000769775 SCV000903375 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276843 SCV000356235 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233455 SCV000356236 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233455 SCV000285710 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036712 SCV000060367 benign not specified 2012-01-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036712 SCV000306047 benign not specified criteria provided, single submitter clinical testing

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