ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1894del (p.Ile632fs)

dbSNP: rs1603434698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852065 SCV000899574 likely pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245654 SCV002515613 likely pathogenic Hereditary factor VIII deficiency disease no assertion criteria provided research

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