ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.458-81T>A

dbSNP: rs7824650
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
Genome-Nilou Lab RCV001553853 SCV001774927 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553854 SCV001774928 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615303 SCV001835465 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615303 SCV005265963 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.