ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)

gnomAD frequency: 0.00043  dbSNP: rs374606415
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525646 SCV000554623 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620432 SCV000738078 likely benign Cardiovascular phenotype 2017-07-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001190662 SCV001358216 benign Cardiomyopathy 2018-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001595009 SCV001829628 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265772 SCV002548114 benign not specified 2022-05-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506139 SCV002807504 likely benign Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-08-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002021 SCV004822150 benign Catecholaminergic polymorphic ventricular tachycardia 2024-01-11 criteria provided, single submitter clinical testing

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