ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.350G>A (p.Arg117Gln)

gnomAD frequency: 0.00012  dbSNP: rs185020288
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500236 SCV000593129 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing
Invitae RCV003574724 SCV004364624 benign not provided 2023-07-07 criteria provided, single submitter clinical testing
CHU Sainte-Justine Research Center, University of Montreal RCV000240486 SCV000299192 likely benign Oromandibular-limb hypogenesis spectrum 2016-08-12 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.