ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1134C>T (p.Asp378=) (rs193922621)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036659 SCV000060314 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Asp378Asp in exon 13 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (69/66454) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs193922621).
Invitae RCV000474808 SCV000554556 benign Catecholaminergic polymorphic ventricular tachycardia 2020-12-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036659 SCV000697602 benign not specified 2016-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618643 SCV000736886 likely benign Cardiovascular phenotype 2017-09-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769772 SCV000901195 likely benign Cardiomyopathy 2017-05-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769772 SCV000903649 likely benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287789 SCV001474519 likely benign none provided 2019-09-25 criteria provided, single submitter clinical testing
GeneDx RCV001529729 SCV001911811 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529729 SCV001743686 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000036659 SCV001924997 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529729 SCV001931734 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000036659 SCV001951419 benign not specified no assertion criteria provided clinical testing

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