ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078444 SCV000110297 benign not specified 2013-03-28 criteria provided, single submitter clinical testing
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
Illumina Clinical Services Laboratory,Illumina RCV000372712 SCV000463858 benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
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
PreventionGenetics RCV000078444 SCV000303176 benign not specified criteria provided, single submitter clinical testing

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