ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) (rs137853247)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503110 SCV000595134 uncertain significance not specified 2016-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763797 SCV000894711 uncertain significance Diabetes mellitus type 1; Diabetes mellitus, insulin-dependent, 20; Maturity-onset diabetes of the young, type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Renal cell carcinoma, nonpapillary 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000835061 SCV000976841 likely benign not provided 2017-03-01 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.
Invitae RCV000835061 SCV001001774 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing
Mendelics RCV000016086 SCV001138840 uncertain significance Maturity-onset diabetes of the young, type 3 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000016086 SCV001269783 likely benign Maturity-onset diabetes of the young, type 3 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285144 SCV001471511 uncertain significance none provided 2019-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000503110 SCV001474912 benign not specified 2020-03-26 criteria provided, single submitter clinical testing
OMIM RCV000016086 SCV000036354 pathogenic Maturity-onset diabetes of the young, type 3 2005-03-01 no assertion criteria provided literature only
OMIM RCV000016087 SCV000036355 pathogenic Clear cell carcinoma of kidney 2005-03-01 no assertion criteria provided literature only
OMIM RCV000016088 SCV000036356 pathogenic Chromophobe renal cell carcinoma 2005-03-01 no assertion criteria provided literature only

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