ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.167T>C (p.Met56Thr)

dbSNP: rs72554320
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507068 SCV000604578 likely pathogenic not specified 2017-02-02 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083354 SCV000115440 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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.