ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.684+33C>T

gnomAD frequency: 0.04666  dbSNP: rs6151416
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527488 SCV001738518 likely benign Metachromatic leukodystrophy 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001615227 SCV001832746 benign not provided 2018-07-30 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.