ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)

gnomAD frequency: 0.00002  dbSNP: rs754213093
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940148 SCV001086005 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705941 SCV005225656 likely benign not provided criteria provided, single submitter not provided

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