ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.368G>T (p.Cys123Phe) (rs1336386457)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000714995 SCV000845802 likely pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter case-control Variant was seen in trans with T532M. C143F is considered "probably damaging" by PolyPhen.

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.