ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.8437-7dupG (rs148246251)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036798 SCV000060453 benign not specified 2012-08-22 criteria provided, single submitter clinical testing This variant has been identified in 5.7% (28/490) of African and African America n chromosomes from a broad population by the 1000 Genomes project (dbSNP rs14824 6251).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036798 SCV000111256 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000036798 SCV000235011 benign not specified 2017-09-07 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.
PreventionGenetics,PreventionGenetics RCV000036798 SCV000306076 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355740 SCV000356357 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405880 SCV000356358 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000355740 SCV000554586 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768774 SCV000900144 benign Cardiomyopathy 2015-10-21 criteria provided, single submitter clinical testing
Color RCV000768774 SCV000903045 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing

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