ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.579+12C>G

dbSNP: rs202001955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002128363 SCV002451413 likely benign not provided 2024-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494421 SCV002797306 likely benign Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2022-04-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999662 SCV005621729 likely benign not specified 2024-10-18 criteria provided, single submitter clinical testing

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