ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) (rs886039769)

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
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000256210 SCV000322734 likely pathogenic 46,XY sex reversal, type 3 2016-09-30 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000490553 SCV000622150 uncertain significance 46,XX sex reversal 4 2016-03-23 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our study inferred de novo in a 31-year-old 46,XX male with hypogonadism, decreased testicular size, and primary testicular failure. This patient has been reported in PMID 27378692.
OMIM RCV000490553 SCV000579208 pathogenic 46,XX sex reversal 4 2018-02-16 no assertion criteria provided literature only
OMIM RCV000256210 SCV000579209 pathogenic 46,XY sex reversal, type 3 2018-02-16 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.