ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.138+1G>A (rs747351687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665642 SCV000789795 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-02-21 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000665642 SCV001364948 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.138+1G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220198G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3

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