ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1077+16G>A

gnomAD frequency: 0.00005  dbSNP: rs780420241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200728 SCV001365229 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1077+16G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7222881G>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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001200728 SCV002321306 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2025-01-21 criteria provided, single submitter clinical testing

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