ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser) (rs1555528189)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597061 SCV000707627 uncertain significance not provided 2017-04-21 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200740 SCV001365033 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.575T>C (NP_000009.1:p.Phe192Ser) [GRCH38: NC_000017.11:g.7221635T>C] 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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