ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4818A>G (p.Val1606=)

dbSNP: rs1559110553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774100 SCV000907800 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV002536673 SCV001593985 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-22 criteria provided, single submitter clinical testing

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