ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) (rs370996795)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154826 SCV000204508 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Gly4828Gly in exon 101 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% (4/3164) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; rs370996795). Gly4828Gly in exon 1 01 of RYR2 (rs370996795, allele frequency = 0.1%, 4/3164) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726399 SCV000344392 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618720 SCV000735661 likely benign Cardiovascular phenotype 2016-12-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001081146 SCV001007375 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170492 SCV001333075 benign Cardiomyopathy 2018-02-28 criteria provided, single submitter clinical testing
Color RCV001170492 SCV001357366 benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing

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