ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)

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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 RCV002281012 SCV002569327 pathogenic Platelet-type bleeding disorder 17 criteria provided, single submitter clinical testing

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