ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)

dbSNP: rs755832705
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 RCV001578357 SCV001547580 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
Revvity Omics, Revvity RCV001578357 SCV003808582 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2022-04-28 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University RCV001578357 SCV004012877 pathogenic Mucopolysaccharidosis, MPS-IV-A no assertion criteria provided research

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.