ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.46-12C>T (rs142829768)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711774 SCV000842170 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194380 SCV000247468 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331855 SCV000469453 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388709 SCV000469454 likely benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296692 SCV000469455 likely benign Transient Neonatal Diabetes, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344829 SCV000469456 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029885 SCV000052540 uncertain Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
PreventionGenetics RCV000194380 SCV000302768 benign not specified criteria provided, single submitter clinical testing

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