ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) (rs193922628)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252666 SCV000319618 likely benign Cardiovascular phenotype 2015-05-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769786 SCV000901211 likely benign Cardiomyopathy 2016-11-15 criteria provided, single submitter clinical testing
Color RCV000769786 SCV000910996 benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000036768 SCV000171417 benign not specified 2013-07-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000233691 SCV000356317 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272540 SCV000356318 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030424 SCV000053093 benign Cardiac arrhythmia 2014-10-09 no assertion criteria provided clinical testing
Invitae RCV000233691 SCV000285736 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036768 SCV000060423 likely benign not specified 2015-03-27 criteria provided, single submitter clinical testing p.Asp1862Asp in exon 37 of RYR2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (102/66234) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs193922628).

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