ClinVar Miner

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

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Total submissions: 5
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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
Integrated Genetics/Laboratory Corporation of America RCV000154647 SCV001360982 benign not specified 2019-08-26 criteria provided, single submitter clinical testing Variant summary: RYR2 c.11880+13_11880+16delACTG alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 0.011 in 248142 control chromosomes in the gnomAD database, including 25 homozygotes. The observed variant frequency is approximately 443 fold of the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.

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