ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.333C>T (p.Pro111=) (rs61736250)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194163 SCV000862529 benign not specified 2018-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000194163 SCV000519048 likely benign not specified 2015-10-20 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 RCV000194163 SCV000247465 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394688 SCV000469440 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308226 SCV000469441 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365187 SCV000469442 likely benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402147 SCV000469443 likely benign Transient Neonatal Diabetes, Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000194163 SCV000302766 benign not specified criteria provided, single submitter clinical testing

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