ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) (rs398123277)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078442 SCV000110295 uncertain significance not provided 2013-01-21 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000210829 SCV000267124 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2012-06-15 no assertion criteria provided research

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