ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12669G>A (p.Lys4223=)

gnomAD frequency: 0.00007  dbSNP: rs147887477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541531 SCV001071604 benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186673 SCV001353213 benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001615079 SCV001838466 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372574 SCV002684231 likely benign Cardiovascular phenotype 2021-06-25 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 RCV004003212 SCV004820477 benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-28 criteria provided, single submitter clinical testing

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