ClinVar Miner

Submissions for variant NM_000162.3(GCK):c.645C>T (p.Tyr215=) (rs144723656)

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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 RCV000419746 SCV000842177 benign not provided 2017-09-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419746 SCV000511173 likely benign not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000246889 SCV000513126 benign not specified 2015-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000342725 SCV000469416 likely benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394978 SCV000469417 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280005 SCV000469418 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337358 SCV000469419 likely benign Transient Neonatal Diabetes, Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246889 SCV000302769 benign not specified criteria provided, single submitter clinical testing

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