ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) (rs2233578)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117891 SCV000152164 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117891 SCV000311403 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397400 SCV000466609 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 RCV000445408 SCV000537045 benign Monogenic diabetes 2017-09-22 criteria provided, single submitter research ACMG Criteria:BS1 (9% MAF in Africans in 1000g), BS2 (194 controls and 198 cases in + BP4, PP3 +BP6 (called benign by Chicago). Notes: May be causal in homozygous state. Susceptibility when homozygous (PMID 15509590), 37 hets and 3 homozygotes in 495 TODAY study
OMIM RCV000014801 SCV000035056 risk factor Diabetes mellitus, ketosis-prone, susceptibility to 2004-12-15 no assertion criteria provided literature only

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