ClinVar Miner

Submissions for variant NM_000504.4(F10):c.119G>C (p.Arg40Thr)

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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 RCV003313859 SCV004013051 likely pathogenic Hereditary factor X deficiency disease criteria provided, single submitter clinical testing

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