ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly)

dbSNP: rs2153074606
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843877 SCV002103070 uncertain significance Intellectual disability, autosomal dominant 20 2021-08-19 criteria provided, single submitter clinical testing PM2, PP2, PP3, BS2

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