ClinVar Miner

Submissions for variant NM_000504.4(F10):c.1348G>A (p.Gly450Arg)

dbSNP: rs1595099844
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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 RCV000851588 SCV000899304 likely pathogenic Hereditary factor X 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 RCV000851588 SCV002499584 likely pathogenic Hereditary factor X deficiency disease criteria provided, single submitter clinical testing

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