ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1003-1570G>T

dbSNP: rs2142996885
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001844799 SCV002104176 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter research The patients blood mRNA analysis demonstrated the alteration of splicing.

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.