ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1891T>C (p.Phe631Leu)

dbSNP: rs121908861
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
OMIM RCV000006802 SCV000026998 pathogenic Familial hyperthyroidism due to mutations in TSH receptor 1997-11-01 no assertion criteria provided literature only
OMIM RCV000006803 SCV000026999 pathogenic Thyroid adenoma, hyperfunctioning, somatic 1997-11-01 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.