ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1254-20_1312del

dbSNP: rs2096270578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002287476 SCV002577632 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 rs2096270578 in MODY, yet. This variant is shown to be potentially damaging by insilico analysis.
Kangwon National University Hospital RCV001171548 SCV001334335 pathogenic Maturity-onset diabetes of the young type 2 2018-09-28 no assertion criteria provided clinical testing

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