ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.411G>A (p.Glu137=)

gnomAD frequency: 0.00002  dbSNP: rs760960446
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001479353 SCV001683648 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2023-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426141 SCV004142471 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing FOXN1: BP4

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.