ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)

dbSNP: rs764468030
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
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754935 SCV000788359 uncertain significance Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269834 SCV001450131 pathogenic not provided 2014-11-21 criteria provided, single submitter clinical testing

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.