ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1740C>G (p.Arg580=)

gnomAD frequency: 0.00070  dbSNP: rs78666334
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938672 SCV001084490 benign MHC class II deficiency 2024-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716633 SCV005289583 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000938672 SCV002090738 likely benign MHC class II deficiency 2019-10-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960533 SCV004776938 likely benign CIITA-related disorder 2024-02-20 no assertion criteria provided clinical testing This variant is classified as likely 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.