ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5580G>A (p.Glu1860=)

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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 RCV003074726 SCV003460536 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161686 SCV003868943 likely benign Cardiovascular phenotype 2023-02-16 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.
Color Diagnostics, LLC DBA Color Health RCV003533346 SCV004360631 likely benign Cardiomyopathy 2023-10-16 criteria provided, single submitter clinical testing

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