ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003868593 SCV004666570 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-16 criteria provided, single submitter clinical testing

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