ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.12_13del (p.Asp4fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145824 SCV003832976 likely pathogenic not provided 2021-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047435 SCV005668368 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2024-04-04 criteria provided, single submitter clinical testing

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