ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3599-9del (rs11331089)

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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 RCV000036734 SCV000060389 likely benign not specified 2011-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036734 SCV000111252 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000036734 SCV000234993 benign not specified 2012-07-12 criteria provided, single submitter clinical testing The variant is found in ARVC, POSTMORTEM, CPVT panel(s).
GeneDx RCV000036734 SCV000729804 benign not specified 2018-03-14 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.
Integrated Genetics/Laboratory Corporation of America RCV000030420 SCV000053089 benign Cardiomyopathy 2014-03-04 no assertion criteria provided clinical testing

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