ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13783-6A>G (rs790901)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775980 SCV000910501 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036684 SCV000233241 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000036684 SCV000171436 benign not specified 2011-07-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000340150 SCV000356477 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391438 SCV000356478 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036684 SCV000060339 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036684 SCV000306035 benign not specified criteria provided, single submitter clinical testing

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