ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.136+7A>G

gnomAD frequency: 0.00004  dbSNP: rs559629034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600326 SCV000732564 likely benign not specified 2017-06-22 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 RCV000942129 SCV001088046 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-17 criteria provided, single submitter clinical testing

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