ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)

gnomAD frequency: 0.00002  dbSNP: rs573948177
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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 RCV000771509 SCV000903995 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533988 SCV001009967 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307404 SCV003999089 likely benign Cardiovascular phenotype 2023-03-24 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 RCV003999957 SCV004817505 benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-30 criteria provided, single submitter clinical testing

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