ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11886C>T (p.Ser3962=)

gnomAD frequency: 0.00001  dbSNP: rs1695113528
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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 RCV001452780 SCV001656453 likely benign Catecholaminergic polymorphic ventricular tachycardia 2020-08-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001452780 SCV005428096 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-03-25 criteria provided, single submitter clinical testing

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