ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) (rs121912518)

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
Athena Diagnostics Inc RCV000517056 SCV000614017 pathogenic not provided 2017-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763499 SCV000894285 pathogenic Leydig cell hypoplasia, type 1; Gonadotropin-independent familial sexual precocity 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000015461 SCV000035726 pathogenic Gonadotropin-independent familial sexual precocity 1998-07-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583503 SCV000692111 pathogenic Precocious puberty in males 2012-11-09 no assertion criteria provided clinical testing

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.