ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1751+18G>A

gnomAD frequency: 0.00024  dbSNP: rs528002997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432937 SCV000516705 likely benign not specified 2018-01-18 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.
Counsyl RCV000671356 SCV000796322 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2017-12-15 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000671356 SCV001365169 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1751+18G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224732G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.
Invitae RCV000671356 SCV002402191 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing

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