ClinVar Miner

Submissions for variant NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) (rs137852469)

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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 RCV000851849 SCV000899866 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV000011040 SCV000031267 pathogenic Hereditary factor VIII deficiency disease 1992-01-01 no assertion criteria provided literature only

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