ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) (rs137852522)

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 RCV000413812 SCV000490592 pathogenic not provided 2015-11-05 no assertion criteria provided clinical testing
OMIM RCV000010674 SCV000030900 pathogenic X-linked hydrocephalus syndrome 1994-12-01 no assertion criteria provided literature only
OMIM RCV000010675 SCV000030901 pathogenic Spastic paraplegia 1 1994-12-01 no assertion criteria provided literature only

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.