ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.31G>A (p.Ala11Thr) (rs116093166)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000428003 SCV000842165 benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428003 SCV000511598 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000117128 SCV000513125 likely benign not specified 2017-03-17 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.
Genetic Services Laboratory, University of Chicago RCV000117128 SCV000151289 benign not specified 2013-10-17 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445425 SCV000537034 benign Monogenic diabetes 2016-08-12 criteria provided, single submitter research ACMG Criteria:BP4, BS1 (3% in Africans in 1000g) , BS2( 61 cases and 49 controls, 3 homozygotes in ExAC); 6/503 TODAY, BP6 (Chicago calls benign)
PreventionGenetics RCV000117128 SCV000302765 benign not specified criteria provided, single submitter clinical testing

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