ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.350G>A (p.Arg117Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV001257436 SCV001433993 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2020-07-07 no assertion criteria provided clinical testing

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