ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) (rs193922283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029863 SCV000052518 likely pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Athena Diagnostics Inc RCV000517061 SCV000613413 likely pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763582 SCV000894421 likely pathogenic Permanent neonatal diabetes mellitus; Diabetes mellitus type 2; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young, type 2 2018-10-31 criteria provided, single submitter clinical testing

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