ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.258+7G>C

gnomAD frequency: 0.00010  dbSNP: rs372739987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425692 SCV000525927 likely benign not specified 2017-10-13 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 RCV001405868 SCV001607808 likely benign Intellectual disability, autosomal dominant 20 2021-11-27 criteria provided, single submitter clinical testing

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