ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter)

dbSNP: rs587777211
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Total submissions: 2
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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 RCV000088664 SCV002569328 pathogenic Platelet-type bleeding disorder 17 criteria provided, single submitter clinical testing
OMIM RCV000088664 SCV000121586 pathogenic Platelet-type bleeding disorder 17 2014-01-16 no assertion criteria provided literature only

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