ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)

dbSNP: rs765786213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218874 SCV000270814 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Asp1872Asp in exon 37 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health RCV001190733 SCV001358315 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517502 SCV003473799 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-04-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997719 SCV004820089 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-03-23 criteria provided, single submitter clinical testing

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