ClinVar Miner

Submissions for variant NM_000508.3(FGA):c.112A>G (p.Arg38Gly)

gnomAD frequency: 0.00001  dbSNP: rs121909608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851993 SCV000899434 likely pathogenic Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV002284177 SCV002573727 likely pathogenic not provided 2021-07-08 criteria provided, single submitter clinical testing PS4_Moderate, PM1, PM2
OMIM RCV000017843 SCV000038122 other FIBRINOGEN AARHUS 1 2012-12-20 no assertion criteria provided literature only

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