ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.659C>T (p.Thr220Met) (rs34336420)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247830 SCV000309719 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000006872 SCV000415763 likely benign Maturity-onset diabetes of the young type 7 2017-04-28 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429958 SCV000510931 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445442 SCV000536957 benign Monogenic diabetes 2017-01-13 criteria provided, single submitter research ACMG Criteria:BS2 (8 homozygotes in ExAC (african population)), BS1 (4% in African population in ESP), BP4 (6 predictors) and PP3 (3 predictors)
Invitae RCV000429958 SCV001102641 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000006872 SCV000027068 pathogenic Maturity-onset diabetes of the young type 7 2005-03-29 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.