ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.364-18A>G

gnomAD frequency: 0.00118  dbSNP: rs191255582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616972 SCV000726118 likely benign not specified 2017-12-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000711771 SCV000842167 benign not provided 2017-09-12 criteria provided, single submitter clinical testing
Invitae RCV000711771 SCV002409882 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464027 SCV002605277 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs191255582 in MODY, yet.
Fulgent Genetics, Fulgent Genetics RCV002506472 SCV002807137 benign Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2021-08-30 criteria provided, single submitter clinical testing

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