Submissions for variant NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440404	SCV000521048	likely benign	not specified	2016-03-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000440404	SCV000703960	likely benign	not specified	2016-12-22	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664148	SCV000787600	likely benign	Monogenic diabetes	2019-02-15	criteria provided, single submitter	research	ACMG criteria: PP3 (7 predictors), BP4 (2 predictors), BS2 (6 controls and 11 cases in T2DM and 2 homozygotes in ExAC) NOTE: GeneDx calls likely benign=Likely Benign
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV001127842	SCV000926180	uncertain significance	Renal cysts and diabetes syndrome	2019-07-06	criteria provided, single submitter	literature only
Illumina Laboratory Services, Illumina	RCV001127842	SCV001287192	benign	Renal cysts and diabetes syndrome	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae	RCV002062432	SCV002405253	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002062432	SCV004144498	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	HNF1B: BS2
Ambry Genetics	RCV004022349	SCV005035557	likely benign	Maturity onset diabetes mellitus in young	2023-12-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	RCV001844831	SCV001877062	likely benign	Autosomal dominant polycystic liver disease	2021-09-01	no assertion criteria provided	research
Genetic Services Laboratory, University of Chicago	RCV000440404	SCV003839585	likely benign	not specified	2022-09-07	no assertion criteria provided	clinical testing