ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7863del (p.Thr2622fs)

dbSNP: rs1591834850
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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 RCV001787115 SCV000899927 likely pathogenic von Willebrand disease type 3 2019-02-01 criteria provided, single submitter research

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