ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.1595C>T (p.Thr532Met) (rs201780608)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788264 SCV000927316 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Invitae RCV001085809 SCV001031301 likely benign Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000120438 SCV000084590 not provided not specified 2013-09-19 no assertion provided reference population

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