ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg)

gnomAD frequency: 0.00001  dbSNP: rs398124583
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) RCV000082752 SCV000114796 uncertain significance not provided 2013-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483156 SCV002794438 uncertain significance Maple syrup urine disease 2021-09-09 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.