ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter)

dbSNP: rs267607352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001787130 SCV001520804 pathogenic von Willebrand disease type 3 2020-07-01 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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