ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002286462 SCV002576403 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-07-29 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PM2_SUP, PM3_SUP

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