ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs)

dbSNP: rs2149390162
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526633 SCV001737064 likely pathogenic Macrocephaly criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003151864 SCV003840234 likely pathogenic Microcephaly 18, primary, autosomal dominant 2021-01-06 criteria provided, single submitter research

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.