ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1368A>T (p.Ala456=)

dbSNP: rs10064079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614666 SCV000726859 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064275 SCV002385167 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-03-31 criteria provided, single submitter clinical testing

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