ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1108-60C>T

gnomAD frequency: 0.05763  dbSNP: rs873697
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
GeneDx RCV001639030 SCV001848356 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639030 SCV005277406 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001827552 SCV002081644 benign Metachromatic leukodystrophy 2019-10-16 no assertion criteria provided 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.