ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.913G>A (p.Val305Met)

gnomAD frequency: 0.00010  dbSNP: rs151344505
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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV002211046 SCV002496417 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-03-10 criteria provided, single submitter clinical testing child had premature adrenarche, cliteromegaly and no salt wasting
OMIM RCV002281650 SCV000033206 pathogenic Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 2002-06-01 no assertion criteria provided literature only

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.