ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)

dbSNP: rs869312910
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
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000210475 SCV000266558 pathogenic Lateral meningocele syndrome criteria provided, single submitter research
OMIM RCV000210475 SCV000243861 pathogenic Lateral meningocele syndrome 2015-02-01 no assertion criteria provided literature only
GeneReviews RCV000210475 SCV000282677 not provided Lateral meningocele syndrome no assertion 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.