ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.652-1G>A

dbSNP: rs1397184823
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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV002034881 SCV002107494 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-03-10 criteria provided, single submitter clinical testing This variant was present in trans with c.293-13A/C>G variant of CYP21A2 gene

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.