ClinVar Miner

Submissions for variant NM_003235.5(TG):c.3665C>T (p.Ser1222Leu)

gnomAD frequency: 0.00164  dbSNP: rs12549018
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950738 SCV001097071 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165188 SCV001327363 likely benign Iodotyrosyl coupling defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV002489303 SCV002796498 likely benign Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2022-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000950738 SCV005219968 likely benign not provided criteria provided, single submitter not provided

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.