ClinVar Miner

Submissions for variant NM_000209.3(PDX1):c.726_728dupGCC (p.Pro244_Gly245insPro) (rs193922357)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000261035 SCV000332347 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000261035 SCV000719952 benign not specified 2017-11-14 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.
Integrated Genetics/Laboratory Corporation of America RCV000030082 SCV000052737 benign Maturity-onset diabetes of the young, type 4 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030084 SCV000052739 uncertain Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445549 SCV000537093 likely benign Monogenic diabetes 2015-11-20 criteria provided, single submitter research ACMG Criteria: PM4, BS1, BP4, BP6

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