ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6234C>T (p.Pro2078=)

gnomAD frequency: 0.00002  dbSNP: rs748063607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536292 SCV001611012 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-06-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002974 SCV004832227 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-10-23 criteria provided, single submitter clinical testing

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