ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) (rs398123090)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723640 SCV000109750 uncertain significance not provided 2013-05-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000723640 SCV000602360 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200734 SCV001364895 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.605T>C (NP_000009.1:p.Leu202Pro) [GRCH38: NC_000017.11:g.7221665T>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 23480858. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3

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