ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.21C>A (p.Gly7=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002619074 SCV003497522 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294533 SCV004009369 likely benign Cardiovascular phenotype 2023-06-14 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 RCV004009457 SCV004826758 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-04-28 criteria provided, single submitter clinical testing

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