ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.692A>T (p.Asn231Ile)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147994 SCV003835518 uncertain significance Permanent neonatal diabetes mellitus 1 2022-10-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147993 SCV003835727 uncertain significance Maturity-onset diabetes of the young type 2 2022-10-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147991 SCV003835736 uncertain significance Type 2 diabetes mellitus 2022-10-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147992 SCV003835737 uncertain significance Hyperinsulinism due to glucokinase deficiency 2022-10-14 criteria provided, single submitter clinical testing

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