ClinVar Miner

Submissions for variant NM_000133.4(F9):c.88G>C (p.Val30Leu)

dbSNP: rs1603263395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852238 SCV000899976 pathogenic Hereditary factor VIII deficiency disease 2019-02-01 criteria provided, single submitter research

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