ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11196C>T (p.His3732=)

gnomAD frequency: 0.00001  dbSNP: rs774786081
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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 RCV002529965 SCV000760752 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525641 SCV001735815 likely benign Cardiomyopathy 2019-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162863 SCV003911273 likely benign Cardiovascular phenotype 2023-02-10 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 RCV004003893 SCV004821730 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-10-02 criteria provided, single submitter clinical testing

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