ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3111T>A (p.Pro1037=)

gnomAD frequency: 0.00003  dbSNP: rs754416047
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 RCV000631398 SCV000752469 likely benign Immunodeficiency 2023-03-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432658 SCV004140051 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing NFAT5: 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.