ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003444481 SCV004171588 likely pathogenic Intellectual disability, autosomal dominant 20 2023-11-24 no assertion criteria provided clinical testing

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