ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg)

gnomAD frequency: 0.00131  dbSNP: rs570335069
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
Eurofins Ntd Llc (ga) RCV000173481 SCV000224599 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
Invitae RCV000173481 SCV001014690 benign not provided 2023-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000173481 SCV001757832 benign not provided 2021-04-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000173481 SCV004131416 benign not provided 2023-01-01 criteria provided, single submitter clinical testing MAGEL2: BS1, BS2

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.