ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) (rs377763336)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177899 SCV000229857 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256934 SCV001433455 benign not specified 2019-10-10 criteria provided, single submitter clinical testing
Invitae RCV001478062 SCV001682318 likely benign Catecholaminergic polymorphic ventricular tachycardia 2020-01-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV001526096 SCV001736372 likely benign Cardiomyopathy 2020-01-22 criteria provided, single submitter clinical testing

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