ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu)

gnomAD frequency: 0.00001  dbSNP: rs890185415
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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 RCV002245394 SCV002515620 likely pathogenic Macrothrombocytopenia, isolated, 1, autosomal dominant no assertion criteria provided clinical testing

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