ClinVar Miner

Submissions for variant NM_000133.3(F9):c.-35G>A

gnomAD frequency: 0.00001  dbSNP: rs1166164399
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
Invitae RCV000795083 SCV000934525 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2019-06-17 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the F9 gene. It does not change the encoded amino acid sequence of the F9 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hemophilia B Leyden in families (PMID: 7677806, 2352926) and has been observed in several unrelated affected individuals (PMID: 28168417, 2352926, 8251390, 10595634, 7734378, 8217825). This variant is also known as -6G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 10559). This variant has been reported to affect F9 protein function (PMID: 23472758, 2352926). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001815011 SCV000031533 pathogenic Hemophilia B leyden 1990-08-11 no assertion criteria 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.