ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.-135G>A

gnomAD frequency: 0.00003  dbSNP: rs746492953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500839 SCV000594944 uncertain significance not specified 2017-03-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463690 SCV002605018 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 rs746492953 in MODY, yet.

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