ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.54C>G (p.Ala18=)

dbSNP: rs747327321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607642 SCV000725000 likely benign not specified 2017-11-16 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 RCV001407373 SCV001609348 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-02-19 criteria provided, single submitter clinical testing

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