ClinVar Miner

Submissions for variant NM_005647.4(TBL1X):c.1249G>A (p.Ala417Thr)

dbSNP: rs2083229730
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
SIB Swiss Institute of Bioinformatics RCV001089886 SCV001245390 uncertain significance Hypothyroidism, congenital, nongoitrous, 8 2020-02-14 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Hypothyroidism, congenital, non-goitrous, 8, X-linked. The following ACMG Tag(s) were applied: PM2, PP3.

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.