ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.525+153G>A

gnomAD frequency: 0.23729  dbSNP: rs6010166
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
Genome-Nilou Lab RCV001527230 SCV001738178 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001655797 SCV001869003 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655797 SCV005275861 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.