ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13681C>T (p.Leu4561=)

gnomAD frequency: 0.00001  dbSNP: rs372599604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185932 SCV001352243 likely benign Cardiomyopathy 2019-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559922 SCV001633614 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-07-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008565 SCV004819860 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986909 SCV005496959 likely benign Cardiovascular phenotype 2024-09-08 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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