ClinVar Miner

Submissions for variant NM_032601.4(MCEE):c.311G>T (p.Arg104Leu)

gnomAD frequency: 0.17242  dbSNP: rs6748672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126702 SCV000170212 benign not specified 2013-08-26 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 Laboratory Services, Illumina RCV000350936 SCV000431663 benign Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000126702 SCV000539596 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 17% of total chromosomes in ExAC
Invitae RCV000350936 SCV001726250 benign Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350936 SCV002014118 benign Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 2021-09-05 criteria provided, single submitter clinical testing

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