ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1431C>T (p.Asn477=)

dbSNP: rs1225809471
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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 RCV002557554 SCV001658961 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524850 SCV001734812 likely benign Cardiomyopathy 2020-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007058 SCV004846051 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-04-03 criteria provided, single submitter clinical testing

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