ClinVar Miner

Submissions for variant NM_000196.4(HSD11B2):c.588G>A (p.Ala196=)

gnomAD frequency: 0.08122  dbSNP: rs5480
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030038 SCV000052693 benign Apparent mineralocorticoid excess 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV001689574 SCV001908654 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Invitae RCV001689574 SCV002334153 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974860 SCV004789100 benign HSD11B2-related condition 2019-07-08 criteria provided, single submitter clinical testing This variant is classified as 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.