ClinVar Miner

Submissions for variant NM_005141.5(FGB):c.139C>T (p.Arg47Ter)

gnomAD frequency: 0.00003  dbSNP: rs121909625
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851927 SCV000899307 likely pathogenic Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV001723574 SCV005413660 pathogenic not provided 2023-08-08 criteria provided, single submitter clinical testing PP5, PM3_strong, PS4_moderate, PVS1
OMIM RCV000017822 SCV000038101 pathogenic Congenital afibrinogenemia 2004-04-15 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723574 SCV001957791 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723574 SCV001972555 pathogenic not provided no assertion criteria provided clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243650 SCV002515723 pathogenic Afibrinogenemia no assertion criteria provided research

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