ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.2220G>A (p.Met740Ile) (rs2228317)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175146 SCV000226582 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175146 SCV000305287 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267455 SCV000380629 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086592 SCV000605585 benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086592 SCV000888681 benign not provided 2018-04-27 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086592 SCV000118796 not provided not provided no assertion provided not provided

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.