ClinVar Miner

Submissions for variant NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)

gnomAD frequency: 0.00001  dbSNP: rs757863670
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
UW Hindbrain Malformation Research Program, University of Washington RCV000201607 SCV000256286 pathogenic Familial aplasia of the vermis 2015-02-23 criteria provided, single submitter research
OMIM RCV002265682 SCV000611602 pathogenic Joubert syndrome 34 2015-08-01 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.