ClinVar Miner

Submissions for variant NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)

dbSNP: rs1586182837
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
SIB Swiss Institute of Bioinformatics RCV004577917 SCV001245370 likely pathogenic Hypothyroidism, congenital, nongoitrous, 7 2020-02-14 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Hypothyroidism, congenital, non-goitrous, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PS3, PP3.
OMIM RCV004577917 SCV000992273 pathogenic Hypothyroidism, congenital, nongoitrous, 7 2019-09-05 no assertion criteria provided literature only

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.