ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2760G>A (p.Glu920=) (rs186181155)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036721 SCV000060376 likely benign not specified 2017-05-05 criteria provided, single submitter clinical testing p.Glu920Glu in exon 24 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 0.3% (299/99440) o f European chromosomes, including 2 homozygotes, by the Genome Aggregation Datab ase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs186181155).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724532 SCV000228123 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV000724532 SCV000285716 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000234389 SCV000356253 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368575 SCV000356254 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618697 SCV000735203 likely benign Cardiovascular phenotype 2015-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769780 SCV000901205 benign Cardiomyopathy 2017-09-19 criteria provided, single submitter clinical testing
Color RCV000769780 SCV000910854 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing

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