ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.402C>T (p.Ser134=)

gnomAD frequency: 0.00011  dbSNP: rs776832019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177134 SCV001341277 likely benign Cardiomyopathy 2019-09-27 criteria provided, single submitter clinical testing
GeneDx RCV001712870 SCV001944553 benign not provided 2015-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558842 SCV002350127 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356827 SCV002622366 likely benign Cardiovascular phenotype 2021-01-21 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.
All of Us Research Program, National Institutes of Health RCV004006366 SCV004847000 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-18 criteria provided, single submitter clinical testing

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