ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)

dbSNP: rs796052123
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
Invitae RCV001382879 SCV001581834 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-08-27 criteria provided, single submitter clinical testing
OMIM RCV000186583 SCV000240159 uncertain significance not provided 2015-06-01 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.