ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.752T>C (p.Met251Thr)

dbSNP: rs193922326
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Total submissions: 1
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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 RCV000029914 SCV000052569 likely pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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