ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.692+209C>A

gnomAD frequency: 0.62312  dbSNP: rs3783941
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001610431 SCV001839859 benign not provided 2019-05-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839920 SCV002102117 benign Familial gestational hyperthyroidism 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839918 SCV002102128 benign Familial hyperthyroidism due to mutations in TSH receptor 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839919 SCV002102139 benign Hypothyroidism due to TSH receptor mutations 2021-09-10 criteria provided, single submitter clinical testing
ITMI RCV000122257 SCV000086481 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics, Academic Medical Center RCV000122257 SCV001919928 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000122257 SCV001963030 benign not specified no assertion criteria provided 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.