ClinVar Miner

Submissions for variant NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)

dbSNP: rs2145796377
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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002227301 SCV004013119 uncertain significance Bernard Soulier syndrome criteria provided, single submitter clinical testing
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto RCV002227301 SCV002505679 likely pathogenic Bernard Soulier syndrome 2022-05-02 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.