ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.62+9G>A (rs369512281)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671685 SCV000796684 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671685 SCV001021500 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2020-08-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000671685 SCV001156557 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2019-04-18 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000671685 SCV001365187 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.62+9G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220055G>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.

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