ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.483+117T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035837 SCV005668352 likely pathogenic Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2024-05-23 criteria provided, single submitter clinical testing

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