ClinVar Miner

Submissions for variant NM_000506.5(F2):c.1726-59G>A

gnomAD frequency: 0.38221  dbSNP: rs3136516
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618292 SCV001844847 benign not provided 2018-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11434686, 14504098, 16981886, 19652888, 17059428)
Fulgent Genetics, Fulgent Genetics RCV002492519 SCV002803536 benign Ischemic stroke; Congenital prothrombin deficiency; Pregnancy loss, recurrent, susceptibility to, 2; Thrombophilia due to thrombin defect 2022-03-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618292 SCV005320216 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000133511 SCV000188586 not provided Thrombophilia due to thrombin defect no assertion provided literature only

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.