ClinVar Miner

Submissions for variant NM_000128.4(F11):c.723C>G (p.Phe241Leu)

gnomAD frequency: 0.00004  dbSNP: rs281875265
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
Counsyl RCV000670643 SCV000795521 uncertain significance Hereditary factor XI deficiency disease 2017-11-08 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059029 SCV000090550 not provided not provided no assertion provided not provided
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000670643 SCV004099468 likely pathogenic Hereditary factor XI deficiency disease 2023-10-30 no assertion criteria provided 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.