ClinVar Miner

Submissions for variant NM_003235.5(TG):c.2200T>G (p.Ser734Ala)

dbSNP: rs180223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253912 SCV000309480 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309189 SCV000472006 benign Iodotyrosyl coupling defect 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV000309189 SCV002098890 benign Iodotyrosyl coupling defect 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660759 SCV004382005 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003660759 SCV005270945 benign not provided criteria provided, single submitter not provided
OMIM RCV000013534 SCV000033781 risk factor Autoimmune thyroid disease, susceptibility to, 3 2004-12-01 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV000253912 SCV001917615 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253912 SCV001962919 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.