ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) (rs200771970)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410771 SCV000487081 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-10-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595069 SCV000700489 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000410771 SCV001364935 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1532G>A (NP_000009.1:p.Arg511Gln) [GRCH38: NC_000017.11:g.7224243G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 21932095 . This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3

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