ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3240C>T (p.Gly1080=)

gnomAD frequency: 0.00001  dbSNP: rs745511565
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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 RCV001181018 SCV001346071 likely benign Cardiomyopathy 2020-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320361 SCV002609783 likely benign Cardiovascular phenotype 2022-05-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002554819 SCV003281389 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-08-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000212 SCV004821348 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-01-11 criteria provided, single submitter clinical testing

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