ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.[1213A>G;1871G>A]

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University RCV000766115 SCV000897593 pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2019-02-28 no assertion criteria provided clinical testing CID (Combined Immunodeficiency) T+, reduced B cells, NK+, reduced IgM and IgA ; CHRONIC HHV-6, CMV,EBV VIREMIA; AHIA

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.