ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.885_896del (p.Phe295_Thr299delinsLeu)

gnomAD frequency: 0.00004  dbSNP: rs751513869
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 RCV002151329 SCV002466384 likely benign Ectodermal dysplasia and immunodeficiency 2 2024-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418399 SCV004107852 uncertain significance NFKBIA-related disorder 2023-06-02 criteria provided, single submitter clinical testing The NFKBIA c.885_896del12 variant is predicted to result in an in-frame deletion (p.Phe295_Thr299delinsLeu). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-35871609-TGTGAACTCCGTG-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.