ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1247C>T (p.Thr416Ile)

dbSNP: rs2142234668
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Total submissions: 1
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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 RCV002222144 SCV002499615 uncertain significance Congenital factor VII deficiency criteria provided, single submitter clinical testing

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