ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.2111-7C>A

dbSNP: rs542177817
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
GeneDx RCV001698107 SCV000724775 likely benign not provided 2020-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767644 SCV001020260 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2023-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698107 SCV004010003 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ALDH18A1: BP4, BS2

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.