ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1288C>T (p.Leu430=)

gnomAD frequency: 0.00025  dbSNP: rs193922276
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Total submissions: 3
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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 RCV000029856 SCV000052511 likely benign Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Genetic Services Laboratory,University of Chicago RCV000501325 SCV000594947 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710138 SCV000613411 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing

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