ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) (rs796065045)

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 RCV000190331 SCV000266560 pathogenic Lateral meningocele syndrome criteria provided, single submitter research
OMIM RCV000190331 SCV000243863 pathogenic Lateral meningocele syndrome 2015-02-01 no assertion criteria provided literature only
GeneReviews RCV000190331 SCV000282672 pathogenic Lateral meningocele syndrome 2016-05-10 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.