ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1674del (p.Phe558fs)

dbSNP: rs1747594910
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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 RCV001339925 SCV001533702 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-27 criteria provided, single submitter clinical testing

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