ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.686G>A (p.Arg229His)

gnomAD frequency: 0.00106  dbSNP: rs139670417
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 RCV000640727 SCV000762326 benign Granulomatous disease, chronic, X-linked 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835891 SCV002087139 likely benign Chronic granulomatous disease 2019-12-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003937931 SCV004755967 likely benign CYBB-related disorder 2023-10-16 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.