ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)

gnomAD frequency: 0.00003  dbSNP: rs575054307
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001492996 SCV001697616 likely benign 46,XY sex reversal 9 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531088 SCV001746053 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001531088 SCV005224037 likely benign not provided criteria provided, single submitter not provided
Reproductive Development, Murdoch Childrens Research Institute RCV001007697 SCV001146894 benign 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research

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.