ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.957A>G (p.Lys319=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003068613 SCV003455677 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533344 SCV004358266 likely benign Cardiomyopathy 2022-09-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009345 SCV004846579 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985143 SCV005497008 likely benign Cardiovascular phenotype 2024-08-15 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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