ClinVar Miner

Submissions for variant GCK:c.864-159_864-149del

dbSNP: rs386134235
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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 RCV000029925 SCV000052580 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 RCV002463615 SCV002605132 likely 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 rs386134235 in MODY, yet.

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