ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.898+42G>C

gnomAD frequency: 0.05085  dbSNP: rs76095307
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248024 SCV000304624 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001527798 SCV001738934 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800629 SCV002045058 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001527798 SCV005252592 benign not provided criteria provided, single submitter not provided

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.