ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro)

dbSNP: rs570058270
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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 RCV002245460 SCV002515729 likely pathogenic Platelet-type bleeding disorder 17 no assertion criteria provided research

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