ClinVar Miner

Submissions for variant NM_000133.3(F9):c.580A>G (p.Thr194Ala) (rs6048)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755529 SCV000603534 benign not provided 2017-06-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244191 SCV000339741 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396693 SCV000481883 benign Hemophilia B, Factor IX Deficiency 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000011334 SCV000031565 protective Deep venous thrombosis, protection against 2008-03-19 no assertion criteria provided literature only
PreventionGenetics RCV000244191 SCV000302448 benign not specified 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.