ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) (rs61750070)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Academic Unit of Haematology, University of Sheffield RCV000086732 SCV000118938 not provided not provided no assertion provided not provided
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678769 SCV000804948 pathogenic von Willebrand disorder 2012-05-29 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000678769 SCV000899722 likely pathogenic von Willebrand disorder 2019-02-01 criteria provided, single submitter research

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