ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) (rs1800574)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117230 SCV000151403 benign not specified 2013-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000117230 SCV000168822 benign not specified 2014-05-19 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.
PreventionGenetics,PreventionGenetics RCV000117230 SCV000305105 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391875 SCV000376710 benign Maturity-onset diabetes of the young, type 3 2018-03-06 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445439 SCV000537086 benign Monogenic diabetes 2019-02-01 criteria provided, single submitter research ACMG criteria: BA1 (overall MAF in gnomAD 3%, 6.6% in South Asian in gnomAD, ~3% in other subpop), BS2 (346 cases and 404 controls in T2DM ) [Revel score 0.597, PP3 (6), BP4 (4)= conflicting evidence, not using] [not using BP6]: benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117230 SCV000707747 benign not specified 2017-04-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713791 SCV000844423 benign not provided 2017-08-31 criteria provided, single submitter clinical testing
ITMI RCV000117230 SCV000085359 not provided not specified 2013-09-19 no assertion provided reference population

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