ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1852A>G (p.Ile618Val)

dbSNP: rs2126791743
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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 RCV002222148 SCV002499625 uncertain significance Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing

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