ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)

dbSNP: rs1580988074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027718 SCV001190302 likely pathogenic Intellectual disability, autosomal dominant 20 2019-08-09 criteria provided, single submitter clinical testing

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