ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1360G>C (p.Asp454His)

dbSNP: rs1419606204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200709 SCV001365103 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1360G>C (NP_000009.1:p.Asp454His) [GRCH38: NC_000017.11:g.7223995G>C] 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: PM5, PP3

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