ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)

gnomAD frequency: 0.00004  dbSNP: rs369323506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768769 SCV000900139 uncertain significance Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
Invitae RCV002533948 SCV001002981 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000768769 SCV001346710 likely benign Cardiomyopathy 2019-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332547 SCV002633834 likely benign Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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