ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) (rs72549416)

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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 RCV000036789 SCV000060444 benign not specified 2012-03-23 criteria provided, single submitter clinical testing Asp2455Asp in exon 49 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.6% (43/6656) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs72549416)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036789 SCV000111255 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
Invitae RCV000858036 SCV000285746 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252487 SCV000318616 likely benign Cardiovascular phenotype 2016-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000332748 SCV000356345 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229972 SCV000356346 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030427 SCV000901219 benign Cardiomyopathy 2016-07-05 criteria provided, single submitter clinical testing
Color RCV000030427 SCV000902766 benign Cardiomyopathy 2018-03-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030427 SCV000053096 benign Cardiomyopathy 2014-03-20 no assertion criteria provided clinical testing

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