ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe)

dbSNP: rs61749380
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000339 SCV000020483 pathogenic von Willebrand disease type 2M 2003-02-01 no assertion criteria provided literature only
Academic Unit of Haematology, University of Sheffield RCV000086691 SCV000118895 not provided not provided no assertion provided not provided

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