ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.1332C>T (p.His444=)

gnomAD frequency: 0.00004  dbSNP: rs376439815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726386 SCV000344269 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000270167 SCV000516724 benign not specified 2015-07-13 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 RCV001480397 SCV001684713 likely benign Intellectual disability, autosomal dominant 20 2023-09-22 criteria provided, single submitter clinical testing

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