ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6903T>C (p.Phe2301=)

gnomAD frequency: 0.00001  dbSNP: rs1681104404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002554005 SCV001612052 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2019-06-17 criteria provided, single submitter clinical testing

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