ClinVar Miner

Submissions for variant NM_005912.2(MC4R):c.110A>T (p.Asp37Val) (rs13447325)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435394 SCV000513546 likely benign not specified 2016-05-27 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 RCV000015395 SCV001280932 uncertain significance Obesity 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262822 SCV001440830 likely benign BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 2019-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000015395 SCV000052812 not provided Obesity 2015-10-02 no assertion provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000015395 SCV000692295 uncertain significance Obesity 2017-11-22 no assertion criteria provided clinical testing present with c.105C>A in two patients, phase not known
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000015395 SCV000733801 likely benign Obesity no assertion criteria provided clinical testing

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