ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.456C>T (p.His152=)

dbSNP: rs1554112204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610971 SCV000728741 likely benign not specified 2017-02-10 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 RCV003619710 SCV004394465 likely benign Intellectual disability, autosomal dominant 20 2023-09-10 criteria provided, single submitter clinical testing

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