ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.573G>C (p.Trp191Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466844 SCV002761622 likely pathogenic Von Willebrand disease type 2B 2020-06-05 criteria provided, single submitter clinical testing

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