ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2397-6C>T (rs78165942)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769777 SCV000901202 benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing
Color RCV000769777 SCV000910833 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000036717 SCV000171408 benign not specified 2013-01-25 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 RCV000230536 SCV000356247 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338566 SCV000356248 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230536 SCV000285715 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036717 SCV000060372 benign not specified 2012-04-24 criteria provided, single submitter clinical testing 2397-6C>T in Intron 21 of RYR2: This variant is not expected to have clinical si gnificance because it is not located within the conserved +/- 1, 2 invariant reg ion. It has been identified in 3.8% (116/3076) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS/; rs78165942).

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