ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)

dbSNP: rs137852474
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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 RCV002245383 SCV002515599 likely pathogenic Hereditary factor VIII deficiency disease no assertion criteria provided research

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