ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.820A>G (p.Ile274Val) (rs35976361)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000021969 SCV000042639 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 3.3 U/L w/no paired control. Second mutation not identified.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224487 SCV000280765 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000021969 SCV000441826 likely benign Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000021969 SCV000800817 likely benign Biotinidase deficiency 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV000224487 SCV001013021 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Mendelics RCV000021969 SCV001136345 likely benign Biotinidase deficiency 2019-05-28 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.