ClinVar Miner

Submissions for variant NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)

dbSNP: rs121909613
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Total submissions: 3
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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 RCV002222001 SCV002499618 likely pathogenic Deep venous thrombosis criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490382 SCV002781192 likely pathogenic Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 2021-07-28 criteria provided, single submitter clinical testing
OMIM RCV000017872 SCV000038151 other FIBRINOGEN DUSART 2018-11-07 no assertion criteria provided literature only

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