ClinVar Miner

Submissions for variant NM_000457.4(HNF4A):c.810C>T (p.Asp270=) (rs6031592)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030029 SCV000052684 likely benign Maturity-onset diabetes of the young, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000254264 SCV000316598 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000254264 SCV000595149 likely benign not specified 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000254264 SCV000714358 likely benign not specified 2017-03-22 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 RCV000965473 SCV001112743 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000965473 SCV001144213 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137148 SCV001297058 likely benign Familial hyperinsulinism 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000030029 SCV001299523 benign Maturity-onset diabetes of the young, type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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