ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.402+145A>G

dbSNP: rs1777617806
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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, University of Leipzig Medical Center RCV001262291 SCV001440105 uncertain significance Intellectual disability, autosomal dominant 20 2019-01-01 criteria provided, single submitter clinical testing

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