ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.1922C>T (p.Ala641Val) (rs61754019)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506298 SCV000602291 uncertain significance not specified 2017-02-07 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851726 SCV000899579 likely pathogenic von Willebrand disorder 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086582 SCV001148598 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086582 SCV000118786 not provided not provided no assertion provided not provided
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477864 SCV000536884 uncertain significance Von Willebrand disease, recessive form; von Willebrand disease type 1; von Willebrand disease type 2 2016-02-09 no assertion criteria provided research

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.