ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6917del (p.Leu2306fs)

dbSNP: rs2136375588
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
Laboratory of Hematology, Radboud University Medical Center RCV001787208 SCV002546352 pathogenic von Willebrand disease type 3 2020-12-10 criteria provided, single submitter research
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787208 SCV001572730 likely 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.