ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)

dbSNP: rs61750620
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
Laboratory of Hematology, Radboud University Medical Center RCV002264668 SCV002546347 likely pathogenic von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086854 SCV000119060 not provided not provided no assertion provided not provided

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