ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1655-30T>C

gnomAD frequency: 0.85718  dbSNP: rs12937410
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 RCV001549117 SCV001769212 benign Autosomal recessive congenital ichthyosis 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001676054 SCV001895652 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676054 SCV005251575 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.