ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13269G>A (p.Lys4423=)

dbSNP: rs1695515888
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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 RCV003015279 SCV002397144 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382350 SCV002691583 likely benign Cardiovascular phenotype 2019-12-21 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 RCV004005362 SCV004823378 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-08-28 criteria provided, single submitter clinical testing

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