ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1511C>T (p.Ala504Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990756 SCV004807691 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-29 criteria provided, single submitter clinical testing

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