ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.567-3C>T

gnomAD frequency: 0.00001  dbSNP: rs549597016
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
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001521417 SCV001547745 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Allele frequency is greater than expected for disorder (BS1_strong)
Labcorp Genetics (formerly Invitae), Labcorp RCV001521417 SCV001730758 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521417 SCV002044957 likely benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 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.