ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) (rs370332882)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621644 SCV000735863 likely benign Cardiovascular phenotype 2017-05-15 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 RCV000769804 SCV000901230 likely benign Cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000769804 SCV000903378 benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing
Invitae RCV000229147 SCV000285689 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-06-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151772 SCV000200190 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro3647Pro in exon 78 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (4/6562) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Pro3647Pro in exon 78 of RYR2 (al lele frequency = 0.1%, 4/6562) **

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