ClinVar Miner

Submissions for variant NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)

gnomAD frequency: 0.00001  dbSNP: rs104894586
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) RCV000081186 SCV000113094 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000006225 SCV000680292 likely pathogenic MPDU1-congenital disorder of glycosylation 2017-12-09 criteria provided, single submitter clinical testing
Suma Genomics RCV000006225 SCV003762224 uncertain significance MPDU1-congenital disorder of glycosylation criteria provided, single submitter clinical testing
OMIM RCV000006225 SCV000026407 pathogenic MPDU1-congenital disorder of glycosylation 2001-12-01 no assertion criteria provided literature only

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.