ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)

dbSNP: rs2153074771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805750 SCV002053751 likely pathogenic Intellectual disability, autosomal dominant 20 criteria provided, single submitter clinical testing

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