ClinVar Miner

Submissions for variant NM_175914.4(HNF4A):c.669A>G (p.Leu223=) (rs139591750)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000192677 SCV000168830 benign not specified 2014-03-07 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.
Genetic Services Laboratory, University of Chicago RCV000192677 SCV000247564 likely benign not specified 2015-05-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000192677 SCV000316596 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000961698 SCV001108750 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000961698 SCV001144211 benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137144 SCV001297052 benign Familial hyperinsulinism 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.
Illumina Clinical Services Laboratory,Illumina RCV000030027 SCV001297053 benign Maturity-onset diabetes of the young, type 1 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030027 SCV000052682 not provided Maturity-onset diabetes of the young, type 1 2015-10-02 no assertion provided clinical testing

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