ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1165G>C (p.Val389Leu)

dbSNP: rs1350717554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499682 SCV000594949 pathogenic Hyperinsulinism due to glucokinase deficiency 2017-01-12 criteria provided, single submitter clinical testing

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