ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)

dbSNP: rs1555374290
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000508613 SCV000605832 pathogenic Schaaf-Yang syndrome 2017-09-26 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000508613 SCV001469174 likely pathogenic Schaaf-Yang syndrome 2020-02-05 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.