ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs377763336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002516758 SCV001682318 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-05-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001526096 SCV001736372 likely benign Cardiomyopathy 2020-01-22 criteria provided, single submitter clinical testing

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