ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.342G>A (p.Val114=)

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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 RCV003602043 SCV004557163 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-24 criteria provided, single submitter clinical testing

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