ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1606-22C>T (rs370303265)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506906 SCV000602368 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing
Counsyl RCV000671330 SCV000796292 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 RCV000671330 SCV001365165 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1606-22C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224458C>T] 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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