ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1930T>G (p.Leu644Val)

dbSNP: rs2124082414
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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 RCV002223107 SCV002500863 likely pathogenic Hereditary factor VIII deficiency disease criteria provided, single submitter clinical testing

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