ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) (rs180869784)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537911 SCV000629970 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000673241 SCV000798422 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000681633 SCV000809077 uncertain significance Infantile GM1 gangliosidosis 2018-05-01 criteria provided, single submitter 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.