ClinVar Miner

Variants in gene MED12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 association other not provided total
18 28 245 252 89 28 3 6 583

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
FG syndrome 1 7 4 135 98 38 0 0 0 281
not provided 6 12 60 54 34 0 0 0 160
not specified 0 0 17 114 32 0 0 6 153
Cardiovascular phenotype 0 0 20 30 14 0 0 0 64
History of neurodevelopmental disorder 0 0 8 12 12 0 0 0 31
Uterine leiomyoma 0 0 0 0 0 28 0 0 28
Inborn genetic diseases 0 4 10 0 0 0 0 0 14
X-linked mental retardation with marfanoid habitus syndrome 2 0 8 2 0 0 0 0 12
Ohdo syndrome, X-linked 5 2 3 0 0 0 0 0 10
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome 1; Ohdo syndrome, X-linked 1 1 8 0 0 0 0 0 10
Intellectual disability 1 1 5 1 1 0 0 0 9
Adenocarcinoma of prostate 0 2 0 0 0 0 0 0 2
Adenocarcinoma of stomach 0 2 0 0 0 0 0 0 2
Breast neoplasm 0 2 0 0 0 0 0 0 2
Pancreatic adenocarcinoma 0 2 0 0 0 0 0 0 2
See cases 0 1 1 0 0 0 0 0 2
Squamous cell lung carcinoma 0 2 0 0 0 0 0 0 2
X-linked MED12-related disorder 0 0 2 0 0 0 0 0 2
Angiosarcoma 0 0 0 0 0 0 1 0 1
Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability 1 0 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 0 0 1
Glioblastoma 0 0 0 0 0 0 1 0 1
Global developmental delay; Expressive language delay; Seizures; Abnormal facial shape; Absent speech; Microcephaly; Ventriculomegaly 0 1 0 0 0 0 0 0 1
MED12-related disorder 1 0 0 0 0 0 0 0 1
Nephroblastoma 0 0 0 0 0 0 1 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
Invitae 1 0 133 117 48 0 0 0 299
GeneDx 5 10 33 108 44 0 0 0 200
Ambry Genetics 0 4 35 37 17 0 0 0 92
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 20 2 15 0 0 0 38
Genetic Services Laboratory, University of Chicago 0 1 13 11 3 0 0 0 28
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 28
PreventionGenetics, PreventionGenetics 0 0 0 6 6 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 3 0 0 0 0 12
GeneReviews 11 0 0 0 0 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 5 1 0 0 0 7
OMIM 6 0 0 0 0 0 0 0 6
ITMI 0 0 0 0 0 0 0 6 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 2 2 0 0 0 0 6
Baylor Genetics 2 0 3 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 1 0 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 0 0 3 0 0 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 0 0 2
Mendelics 0 1 0 0 1 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Raymond Lab,University of Cambridge 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 1

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