ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.-8C>T

dbSNP: rs2153222958
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568454 SCV001792327 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Predicted to create ATG start codon in the 5UTR; This variant is associated with the following publications: (PMID: 34022131)
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001779254 SCV002016256 pathogenic Neurodevelopmental disorder 2021-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001568454 SCV002544957 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing MEF2C: PS2:Very Strong, PM2, PS4:Moderate, PS3:Supporting
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001685531 SCV004239261 pathogenic Intellectual disability, autosomal dominant 20 2023-09-19 criteria provided, single submitter clinical testing
OMIM RCV001685531 SCV001900879 pathogenic Intellectual disability, autosomal dominant 20 2021-12-02 no assertion criteria provided literature only

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