ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) (rs116774472)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154635 SCV000171418 benign not specified 2013-07-12 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154635 SCV000204309 benign not specified 2014-02-17 criteria provided, single submitter clinical testing Asp1871Asp in exon 37 of RYR2: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (31/4108) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs116774472).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154635 SCV000229856 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV000228504 SCV000285737 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621203 SCV000736315 benign Cardiovascular phenotype 2016-08-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769787 SCV000901212 benign Cardiomyopathy 2016-10-11 criteria provided, single submitter clinical testing
Color RCV000769787 SCV001342771 benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing

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