ClinVar Miner

Variants in gene MEF2C

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
37 12 78 60 33 4 210

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 0 0 44 19 4 0 67
not provided 12 7 18 4 20 0 61
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 18 2 13 7 2 3 44
not specified 0 0 7 30 8 0 44
History of neurodevelopmental disorder 1 1 1 4 0 0 7
See cases 5 0 0 0 0 0 5
Inborn genetic diseases 3 1 0 0 0 0 4
Autism spectrum disorder 2 0 0 0 0 0 2
Frontotemporal dementia 0 1 1 0 0 0 2
Epilepsy; intellectual deficiency 0 0 1 0 0 0 1
MEF2C-Related Disorder 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 13 4 10 31 15 0 73
Illumina Clinical Services Laboratory,Illumina 0 0 44 19 4 0 67
Invitae 5 0 10 7 2 0 24
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 13 0 14
Genetic Services Laboratory, University of Chicago 3 0 5 3 1 0 12
Ambry Genetics 3 2 1 4 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 7 2 0 0 10
OMIM 5 0 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
ISCA site 1 3 0 0 0 0 0 3
Lineagen Inc. 0 0 2 0 0 0 2
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 1 0 0 0 2
Liping Wei Laboratory,Peking University 2 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 1
PreventionGenetics 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Centro Hospitalar S Joao,Faculty of Medicine of Porto 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1

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