ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) (rs144072210)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Precision Medicine,Vanderbilt University Medical Center RCV000760167 SCV000889985 uncertain significance Von Willebrand disease, recessive form 2018-03-16 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852162 SCV000899818 likely pathogenic Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994803 SCV001148573 uncertain significance not provided 2019-06-01 criteria provided, single submitter 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.