ClinVar Miner

Submissions for variant NM_001256182:c.7545delG

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille RCV000235225 SCV000292423 pathogenic KBG syndrome 2016-01-10 no assertion criteria provided research KBG phenotype

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.