ClinVar Miner

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

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Total submissions: 7
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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; Diabetes mellitus type 2; 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 2018-03-12 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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