ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) (rs398123088)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077916 SCV000109745 uncertain significance not provided 2013-07-31 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000984921 SCV001426475 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000984921 SCV001132830 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-01-29 no assertion criteria provided clinical testing

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