ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8204A>C (p.Asp2735Ala)

gnomAD frequency: 0.00025  dbSNP: rs1213772557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002567935 SCV001412395 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-10-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532918 SCV004360685 likely benign Cardiomyopathy 2023-07-26 criteria provided, single submitter clinical testing

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