ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1488+10G>A

gnomAD frequency: 0.00007  dbSNP: rs190514867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247635 SCV000314010 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247635 SCV000533853 likely benign not specified 2016-11-17 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 RCV000875047 SCV001017316 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-31 criteria provided, single submitter clinical testing

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