ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) (rs115854664)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244697 SCV000318660 benign Cardiovascular phenotype 2016-05-17 criteria provided, single submitter clinical testing
Color RCV000776187 SCV000911315 benign Cardiomyopathy 2018-07-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036683 SCV000336877 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000036683 SCV000171435 benign not specified 2013-04-18 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 RCV000385145 SCV000356475 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228183 SCV000356476 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228183 SCV000285700 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036683 SCV000060338 benign not specified 2012-02-09 criteria provided, single submitter clinical testing 23/3452 AA chrom (0.6%) NHLBI/ESP

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