ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7329A>G (p.Pro2443=)

gnomAD frequency: 0.00002  dbSNP: rs375553387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002560310 SCV001646431 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-07-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524876 SCV001734847 likely benign Cardiomyopathy 2020-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384683 SCV002671053 likely benign Cardiovascular phenotype 2021-10-12 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 RCV004007027 SCV004822057 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-06-28 criteria provided, single submitter clinical testing

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