ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) (rs373282364)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245051 SCV000319041 likely benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777598 SCV000913463 likely benign Cardiomyopathy 2018-03-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309384 SCV000356319 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364105 SCV000356320 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000364105 SCV000554570 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036769 SCV000060424 likely benign not specified 2015-08-25 criteria provided, single submitter clinical testing p.Ala1873Ala in exon 37 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 37/65998 European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org /; dbSNP rs373282364).

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