ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.657A>G (p.Ser219=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004805419 SCV005426585 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004987246 SCV005497037 likely benign Cardiovascular phenotype 2024-10-19 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.

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