ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) (rs398123085)

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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 RCV000077910 SCV000109739 uncertain significance not provided 2013-05-24 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200766 SCV001365122 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1711G>A (NP_000009.1:p.Gly571Arg) [GRCH38: NC_000017.11:g.7224674G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PM3

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