ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12264C>T (p.His4088=)

dbSNP: rs1558404698
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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 RCV000772932 SCV000906314 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV002536640 SCV002382954 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-10-31 criteria provided, single submitter clinical testing

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