ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) (rs1553654107)

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
Counsyl RCV000674889 SCV000800298 uncertain significance Biotinidase deficiency 2018-06-04 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000674889 SCV000845826 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 3.3 U/L with abnormal cutoff at 4.5 U/L @ another lab. Seen with c.1330G>C,p.D444H. Abnormal newborn screen with reduced BTD activity. Caucasian.

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.