Submissions for variant NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252224	SCV000304399	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000252224	SCV000339421	benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354402	SCV000402432	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000354402	SCV000926096	likely benign	Renal cysts and diabetes syndrome	2019-07-06	criteria provided, single submitter	literature only
Athena Diagnostics Inc	RCV000993280	SCV001146117	benign	not provided	2019-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000993280	SCV001858997	benign	not provided	2018-12-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25500806)
Invitae	RCV000993280	SCV002408020	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374415	SCV002667565	benign	Maturity onset diabetes mellitus in young	2020-02-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000993280	SCV003800518	likely benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing