ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.996-33dup

dbSNP: rs3217385
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079273 SCV000111143 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079273 SCV000305443 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554052 SCV001775203 benign Maple syrup urine disease 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001682764 SCV001899215 benign not provided 2015-03-03 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.