ClinVar Miner

Submissions for variant NM_005141.5(FGB):c.506T>A (p.Val169Asp)

dbSNP: rs2110768107
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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 RCV002223109 SCV002500868 uncertain significance Congenital afibrinogenemia criteria provided, single submitter clinical testing

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