ClinVar Miner

Submissions for variant NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) (rs52820871)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000202590 SCV000409974 likely benign Obesity 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419291 SCV000510930 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445524 SCV000537107 benign Monogenic diabetes 2017-09-01 criteria provided, single submitter research ACMG Criteria:PP3 (3 predictors), BP4 (7 predictors), BS1 (1.16% in ESP European pop.), BS2 (68 cases and 56 controls in type2diabetesgenetics.org), BS3 (MC4R activity and binding show similar to wild type, PMID: 10903341). Notes: susceptibility factor with conflicting data (protective and obesity susceptibility), Illumina, Chicago and Children's Mercy call it likely benign
Genetic Services Laboratory, University of Chicago RCV000501342 SCV000595714 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000419291 SCV000842719 benign not provided 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV000419291 SCV001106702 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
UCL Genetics Institute,UCL RCV000202590 SCV000257525 protective Obesity 2014-12-23 no assertion criteria provided case-control
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000202590 SCV000692301 uncertain significance Obesity 2012-06-22 no assertion criteria provided clinical testing

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