ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1828-4C>G (rs184559206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251264 SCV000301519 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000549028 SCV000654943 benign Very long chain acyl-CoA dehydrogenase deficiency 2020-12-02 criteria provided, single submitter clinical testing
Counsyl RCV000549028 SCV000796774 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000549028 SCV001365170 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1828-4C>G (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224953C>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4

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