ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) (rs8589)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078444 SCV000110297 benign not specified 2013-03-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078444 SCV000303176 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000612635 SCV000463858 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-03-06 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, Partners HealthCare Personalized Medicine RCV000078444 SCV000539810 benign not specified 2016-03-28 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: 58% of total chromosomes in ExAC
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000612635 SCV000743909 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-01-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078444 SCV001158973 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612635 SCV000734501 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion criteria provided clinical testing

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