ClinVar Miner

Submissions for variant NM_000128.4(F11):c.616C>T (p.Pro206Ser)

gnomAD frequency: 0.00001  dbSNP: rs779123395
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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 RCV002222147 SCV002499622 likely pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing

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