ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13713G>A (p.Thr4571=)

dbSNP: rs761552358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186432 SCV001352835 likely benign Cardiomyopathy 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003526052 SCV004303930 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008603 SCV004819893 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-30 criteria provided, single submitter clinical testing

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