ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.208+16C>T

gnomAD frequency: 0.00018  dbSNP: rs377747439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516194 SCV000613418 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464231 SCV002605377 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 rs377747439 in MODY, yet.

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