ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2377C>T (p.Gln793Ter)

dbSNP: rs2136440316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478805 SCV004221498 pathogenic not provided 2022-12-05 criteria provided, single submitter clinical testing This nonsense variant causes the premature termination of VWF protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with von Willebrand disease (VWD) type 3 (PMIDs: 19500169 (2009), 23311757 (2013)). Based on the available information, this variant is classified as pathogenic.
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787193 SCV001572657 pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.