ClinVar Miner

Submissions for variant NM_000263.3(NAGLU):c.-144G>A

gnomAD frequency: 0.00263  dbSNP: rs538885425
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
Illumina Laboratory Services, Illumina RCV000317108 SCV000402895 uncertain significance Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808684 SCV005433375 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing NAGLU: 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.