ClinVar Miner

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

dbSNP: rs121909613
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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 2024-06-03 criteria provided, single submitter clinical testing
OMIM RCV000017872 SCV000038151 other FIBRINOGEN DUSART 2018-11-07 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.