ClinVar Miner

Submissions for variant NM_005141.4(FGB):c.130C>T (p.Arg44Cys)

dbSNP: rs121909616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852015 SCV000899473 likely pathogenic Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV002284174 SCV002573726 likely pathogenic not provided 2021-12-06 criteria provided, single submitter clinical testing PM1, PM2, PS4_Moderate
Institute of Human Genetics, University Hospital Muenster RCV002287338 SCV002578100 likely pathogenic Stroke disorder 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3,PP4,PP5
OMIM RCV000017804 SCV000038083 other FIBRINOGEN CHRISTCHURCH 2 2018-03-29 no assertion criteria provided literature only

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