ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)

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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 RCV002284153 SCV002573463 pathogenic Platelet-type bleeding disorder 17 criteria provided, single submitter clinical testing

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