ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) (rs138064129)

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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 RCV000621959 SCV000735176 benign Cardiovascular phenotype 2015-03-11 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769781 SCV000901206 benign Cardiomyopathy 2016-11-21 criteria provided, single submitter clinical testing
Color RCV000769781 SCV000910956 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036723 SCV000228307 benign not specified 2014-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228226 SCV000356259 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380049 SCV000356260 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228226 SCV000285717 benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036723 SCV000060378 benign not specified 2015-03-30 criteria provided, single submitter clinical testing p.Asp1010Asp in exon 26 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 2.2% (189/8610) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs138064129).

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