ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.88+126A>C

gnomAD frequency: 0.76474  dbSNP: rs9787589
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548866 SCV001768856 benign ALDH18A1-related de Barsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548867 SCV001768857 benign Hereditary spastic paraplegia 9A 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548868 SCV001768858 benign Autosomal recessive complex spastic paraplegia type 9B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549105 SCV001769191 benign Cutis laxa, autosomal dominant 3 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658278 SCV001875519 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658278 SCV005324107 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.