ClinVar Miner

Submissions for variant NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter)

dbSNP: rs879255655
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
David Geffen School of Medicine, University of California, Los Angeles RCV000754098 SCV000212255 pathogenic Asphyxiating thoracic dystrophy 1 no assertion criteria provided research
OMIM RCV000239685 SCV000298010 pathogenic Short-rib thoracic dysplasia 15 with polydactyly 2015-06-16 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.