ClinVar Miner

Submissions for variant NM_003235.5(TG):c.2610G>T (p.Gln870His)

gnomAD frequency: 0.00229  dbSNP: rs2229843
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
Invitae RCV000880032 SCV001023095 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001002732 SCV001160726 uncertain significance Premature ovarian failure 2019-04-22 criteria provided, single submitter research This variant was identified as homozygous in a female individual with hypergonadotropic hypogonadism.
Illumina Laboratory Services, Illumina RCV000013527 SCV001324992 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000013527 SCV000033774 uncertain significance Iodotyrosyl coupling defect 2005-09-01 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.