ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter)

dbSNP: rs776627170
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
CeGaT Center for Human Genetics Tuebingen RCV000994883 SCV001148684 likely pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223415 SCV003918975 pathogenic Warsaw breakage syndrome 2023-04-20 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.