ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro)

dbSNP: rs1460092963
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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001200925 SCV001250605 uncertain significance Metachromatic leukodystrophy no assertion criteria provided clinical testing
Gelb Laboratory, University of Washington RCV001200925 SCV005046746 not provided Metachromatic leukodystrophy no assertion provided in vitro

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.