ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11880+13_11880+16del (rs199562036)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154647 SCV000204322 benign not specified 2013-05-30 criteria provided, single submitter clinical testing 11880+13_11880+16delACTG in intron 88 of RYR2: This variant is not expected to h ave clinical significance because it is not located within the splice consensus sequence and has been identified in 1.6% (125/7922) of European American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/).
GeneDx RCV000154647 SCV000235019 benign not specified 2013-12-06 criteria provided, single submitter clinical testing The variant is found in ARVC, CPVT, POSTMORTEM, ARRHYTHMIA, CARDIOMYOPATHY panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000405071 SCV000356441 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307997 SCV000356442 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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