ClinVar Miner

Submissions for variant NM_000162.3(GCK):c.618G>A (p.Thr206=) (rs142817246)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117133 SCV000521575 likely benign not specified 2015-11-25 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.
Genetic Services Laboratory, University of Chicago RCV000117133 SCV000151294 benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398402 SCV000469420 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311587 SCV000469421 likely benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368510 SCV000469422 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398687 SCV000469423 likely benign Transient Neonatal Diabetes, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029898 SCV000052553 likely benign Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.

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