ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.883T>C (p.Tyr295His)

dbSNP: rs121434366
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
Eurofins Ntd Llc (ga) RCV000724276 SCV000232915 pathogenic not provided 2014-09-10 criteria provided, single submitter clinical testing
OMIM RCV000002162 SCV000022320 pathogenic Glutaric aciduria, type 1 1995-09-01 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.