ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6555+6G>A (rs372661934)

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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 RCV000769790 SCV000901215 benign Cardiomyopathy 2016-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153877 SCV000203482 benign not specified 2014-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000153877 SCV000235004 benign not specified 2014-06-26 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 RCV000312050 SCV000356333 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348164 SCV000356334 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000312050 SCV000554588 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000153877 SCV000204502 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing c.6555+6G>A in intron 42 of RYR2: This variant is not expected to have clinical significance because it has been identified in 0.8% (71/8516) of African chromos omes, including 2 homozygotes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs372661934).

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