ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.678_679+2del

dbSNP: rs1554335391
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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 RCV000501175 SCV000594961 pathogenic Maturity-onset diabetes of the young type 2 2016-02-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463692 SCV002605141 likely pathogenic 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 rs1554335391 in MODY, yet.

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