Submissions for variant NM_175914.5(HNF4A):c.426+6G>A

gnomAD frequency: 0.00070  dbSNP: rs182980547

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030022	SCV000052677	uncertain	Maturity-onset diabetes of the young type 1	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Uncertain significance.
GeneDx	RCV000428253	SCV000518213	likely benign	not specified	2015-08-27	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.
Athena Diagnostics	RCV000711958	SCV000842369	benign	not provided	2018-07-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711958	SCV001034246	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030022	SCV001302277	benign	Maturity-onset diabetes of the young type 1	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). 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.
Illumina Laboratory Services, Illumina	RCV001141895	SCV001302278	uncertain significance	Familial hyperinsulinism	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago	RCV000428253	SCV002067855	likely benign	not specified	2020-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711958	SCV004033886	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	HNF4A: BP4, BS1, BS2