ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) (rs34967813)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757726 SCV000886064 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249909 SCV000317425 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000036801 SCV000050831 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000030429 SCV000910525 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036801 SCV000111259 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000036801 SCV000171425 benign not specified 2011-08-08 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 RCV000380338 SCV000356369 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283576 SCV000356370 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030429 SCV000053098 benign Cardiomyopathy 2014-02-26 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036801 SCV000060456 benign not specified 2012-04-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036801 SCV000306079 benign not specified criteria provided, single submitter clinical testing

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