ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.737T>C (p.Leu246Pro)

dbSNP: rs1553616482
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478078 SCV000602254 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing The has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. To the best of our knowledge, the variant has not been reported in the published literature. Based on the available information, we are unable to determine the clinical significance of the variant.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581987 SCV000692410 uncertain significance Thyroid hormone resistance, generalized, autosomal dominant 2017-07-13 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.