ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.935C>G (p.Thr312Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313857 SCV004013046 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant criteria provided, single submitter clinical testing

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