ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.208+11G>A (rs77440690)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029869 SCV000052524 uncertain Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000195056 SCV000247463 uncertain significance not specified 2015-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353957 SCV000469448 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000195056 SCV000719960 likely benign not specified 2017-05-26 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.

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