ClinVar Miner

Submissions for variant NM_000457.4(HNF4A):c.416C>T (p.Thr139Ile) (rs1800961)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117238 SCV000168829 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 RCV000117238 SCV000151411 benign not specified 2013-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280314 SCV000433892 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337755 SCV000433893 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117238 SCV000539310 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 309/13006=2.3%
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445529 SCV000537113 benign Monogenic diabetes 2017-03-31 criteria provided, single submitter research ACMG Criteria:BP4, BP6 (ClinVar=benign with 2 stars, Chicago and GeneDx call it benign), BS1 (4.6% in European Finnish ExAC), BS2 (549 cases and 492 controls in type2diabetesgenetics.org and 73 homozygotes in ExAC)
PreventionGenetics RCV000117238 SCV000316593 benign not specified criteria provided, single submitter clinical testing

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