ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.364-49dup

dbSNP: rs193922294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029878 SCV000052533 uncertain Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464000 SCV002605279 uncertain significance 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 rs193922294 in MODY, yet.

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