ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) (rs869320682)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190825 SCV000245695 pathogenic Syndromic X-linked mental retardation, Cabezas type 2015-01-01 no assertion criteria provided literature only
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000190825 SCV001432395 pathogenic Syndromic X-linked mental retardation, Cabezas type no assertion criteria provided clinical testing

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.