ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.803del (p.Asn268fs)

dbSNP: rs879255275
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
Engle Laboratory, Boston Children's Hospital RCV000240679 SCV000265997 pathogenic Duane syndrome type 1; Duane retraction syndrome 2 2016-03-01 criteria provided, single submitter research
OMIM RCV000235061 SCV000292425 pathogenic Duane retraction syndrome 3 with or without deafness 2016-07-18 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.