ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1969T>G (p.Ser657Ala)

gnomAD frequency: 0.00157  dbSNP: rs56368098
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000631400 SCV000752471 benign Immunodeficiency 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710165 SCV005254877 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905690 SCV004724621 benign NFAT5-related disorder 2019-09-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.