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
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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036711 SCV000226883 benign not specified 2014-12-23 criteria provided, single submitter clinical testing
Invitae RCV000226767 SCV000285708 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246162 SCV000318798 benign Cardiovascular phenotype 2015-06-01 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;Synonymous alterations with insufficient evidence to classify as benign;Other strong data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000311993 SCV000356233 likely benign Arrhythmogenic right ventricular dysplasia, familial, 2 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001093805 SCV000356234 likely benign Catecholaminergic polymorphic ventricular tachycardia type 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). 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.
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
Integrated Genetics/Laboratory Corporation of America RCV000030416 SCV000053085 benign Cardiomyopathy 2013-12-26 no assertion criteria provided clinical testing

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