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
Athena Diagnostics Inc RCV000713791 SCV000844423 benign not provided 2017-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117230 SCV000707747 benign not specified 2017-04-26 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.
Genetic Services Laboratory, University of Chicago RCV000117230 SCV000151403 benign not specified 2013-03-04 criteria provided, single submitter clinical testing
ITMI RCV000117230 SCV000085359 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000391875 SCV000376710 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445439 SCV000537086 benign Monogenic diabetes 2017-09-29 criteria provided, single submitter research ACMG Criteria:PP3, BP4, BS1 (7.8% in South Asian in ExAC, 6.4% in European Finnish in ExAC), BS2 (346 cases and 404 controls in type2diabetesgenetics.org ), BP6 (GeneDx and Chicago call it benign)
PreventionGenetics RCV000117230 SCV000305105 benign not specified criteria provided, single submitter clinical testing

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