ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1150-17_1150-16del

dbSNP: rs904388490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610974 SCV000722940 likely benign not specified 2017-09-28 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 RCV003497865 SCV004344687 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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