ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2016A>G (p.Lys672=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003532842 SCV004358288 likely benign Cardiomyopathy 2023-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638968 SCV004516448 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985450 SCV005497090 likely benign Cardiovascular phenotype 2024-12-08 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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