ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) (rs398123083)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169627 SCV000221156 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2015-02-25 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790745 SCV000225985 pathogenic not provided 2012-08-06 criteria provided, single submitter clinical testing

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