ClinVar Miner

Submissions for variant NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) (rs864309527)

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
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS RCV000202604 SCV000257550 pathogenic X-linked dominant Parkinson's disease 2015-09-14 criteria provided, single submitter research It segregates with disease in the family, affects a highly conserved amino acid, and functional work whos that this mutation alters the intracellular localization of the protein.
OMIM RCV000207511 SCV000263070 pathogenic Early-onset parkinsonism-intellectual disability syndrome 2019-10-11 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.