Submissions for variant NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)

gnomAD frequency: 0.00163  dbSNP: rs146238335

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445489	SCV000536955	likely benign	Monogenic diabetes	2015-05-15	criteria provided, single submitter	research
Genetic Services Laboratory, University of Chicago	RCV001821212	SCV002067874	likely benign	not specified	2020-12-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002063658	SCV002394713	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502592	SCV002812593	likely benign	Maturity-onset diabetes of the young type 7	2022-03-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002063658	SCV004183712	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	KLF11: BP4
PreventionGenetics, part of Exact Sciences	RCV003942464	SCV004757131	benign	KLF11-related disorder	2020-11-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).