ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) (rs28933675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851817 SCV000899801 likely pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV000010994 SCV000031221 pathogenic Hereditary factor VIII deficiency disease 1991-10-01 no assertion criteria provided literature only

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