ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)

gnomAD frequency: 0.00001  dbSNP: rs758277755
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697840 SCV000525668 likely benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521696 SCV000637577 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525509 SCV001735645 likely benign Cardiomyopathy 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348195 SCV002653204 likely benign Cardiovascular phenotype 2018-11-27 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.
Fulgent Genetics, Fulgent Genetics RCV002502538 SCV002808442 likely benign Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-07-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000419 SCV004820189 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-10-02 criteria provided, single submitter clinical testing

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