ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.735G>A (p.Glu245=)

gnomAD frequency: 0.00016  dbSNP: rs775481896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192589 SCV000247469 uncertain significance not specified 2015-06-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463659 SCV002605107 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 rs775481896 in MODY, yet.
Invitae RCV003765220 SCV004680074 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing

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