ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)

dbSNP: rs2153222922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001533145 SCV001748964 likely pathogenic Intellectual disability, autosomal dominant 20 2021-05-28 criteria provided, single submitter clinical testing

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