ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.667G>A (p.Gly223Ser) (rs1360415315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517681 SCV000613448 pathogenic not provided 2014-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763585 SCV000894424 pathogenic Permanent neonatal diabetes mellitus; Diabetes mellitus type 2; Hyperinsulinemic hypoglycemia familial 3; Maturity-onset diabetes of the young, type 2 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502130 SCV000594959 pathogenic Maturity-onset diabetes of the young, type 2 2016-08-31 criteria provided, single submitter clinical testing

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