ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.464-8A>C (rs10925391)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775992 SCV000910519 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036751 SCV000232593 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000036751 SCV000171397 benign not specified 2013-03-22 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 RCV000382935 SCV000356183 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290814 SCV000356184 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036751 SCV000060406 benign not specified 2011-12-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036751 SCV000306060 benign not specified criteria provided, single submitter clinical testing

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