ClinVar Miner

Submissions for variant NM_000133.4(F9):c.314G>A (p.Gly105Asp)

dbSNP: rs1927590546
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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 RCV002222139 SCV002499610 likely pathogenic Hereditary factor IX deficiency disease criteria provided, single submitter clinical testing

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