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
Illumina Clinical Services Laboratory,Illumina RCV000397400 SCV000466609 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000014801 SCV000035056 risk factor Diabetes mellitus, ketosis-prone, susceptibility to 2004-12-15 no assertion criteria provided literature only
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 type2diabetesgenetics.org) + 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
PreventionGenetics RCV000117891 SCV000311403 benign not specified criteria provided, single submitter clinical testing

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