ClinVar Miner

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

gnomAD frequency: 0.02654  dbSNP: rs2233578
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Total submissions: 9
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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, part of Exact Sciences RCV000117891 SCV000311403 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001511898 SCV001719218 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001511898 SCV001936194 benign not provided 2018-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25525159, 27013732, 20981092, 15509590, 16123375)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001511898 SCV002505987 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511898 SCV005221561 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000014801 SCV000035056 risk factor Diabetes mellitus, ketosis-prone, susceptibility to 2004-12-15 no assertion criteria provided literature only

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