ClinVar Miner

Submissions for variant NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu)

dbSNP: rs5903
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000970762 SCV001118361 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222057 SCV002499606 uncertain significance Heparin cofactor II deficiency criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970762 SCV002544699 benign not provided 2023-12-01 criteria provided, single submitter clinical testing PI4KA: BS1, BS2; SERPIND1: BP4, BS1, BS2

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.