ClinVar Miner

Submissions for variant NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)

gnomAD frequency: 0.00302  dbSNP: rs138281308
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Total submissions: 7
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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 RCV000030156 SCV000052814 uncertain Obesity 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445401 SCV000537108 likely benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.120 + 8 predictors; not using PP3 predictors) + BS2 (29 cases + 27 controls in T2Dgenes): likely benign
GeneDx RCV000610107 SCV000728692 likely benign not specified 2017-02-07 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.
Invitae RCV000889153 SCV001032815 benign not provided 2021-11-29 criteria provided, single submitter clinical testing
Mendelics RCV000030156 SCV001140916 uncertain significance Obesity 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000030156 SCV001287366 benign Obesity 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory,University of Chicago RCV000610107 SCV002067486 likely benign not specified 2018-02-08 criteria provided, single submitter clinical testing

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