ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1863C>T (p.His621=) (rs17686573)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246162 SCV000318798 benign Cardiovascular phenotype 2015-06-01 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,Synonymous alterations with insufficient evidence to classify as benign,Other strong data supporting benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030416 SCV000901198 benign Cardiomyopathy 2016-01-29 criteria provided, single submitter clinical testing
Color RCV000030416 SCV000910651 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036711 SCV000226883 benign not specified 2014-12-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311993 SCV000356233 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226767 SCV000356234 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030416 SCV000053085 benign Cardiomyopathy 2013-12-26 no assertion criteria provided clinical testing
Invitae RCV000226767 SCV000285708 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036711 SCV000060366 benign not specified 2012-03-13 criteria provided, single submitter clinical testing His621His in exon 19 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and has been identified in 0.8% (53/6742) from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17686573).

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