ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1182+17C>A (rs191276923)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432949 SCV000517741 likely benign not specified 2016-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200796 SCV001365183 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1182+17C>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7223254C>A] variant in ACADVL gene is interpretated to be Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001200796 SCV001474554 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2019-09-17 criteria provided, single submitter clinical testing

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