ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5365C>T (p.Arg1789Ter)

gnomAD frequency: 0.00001  dbSNP: rs201790842
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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 RCV000852156 SCV000899796 pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research

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