ClinVar Miner

Variants in gene MED12

Minimum submission review status: Collection method:
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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 association other not provided total
15 19 137 172 49 28 3 6 372

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
not specified 0 0 18 114 31 0 0 6 152
FG syndrome 7 3 40 36 25 0 0 0 111
not provided 5 11 50 5 1 0 0 0 71
Cardiovascular phenotype 0 0 21 30 13 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 2 10 0 0 0 0 0 12
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 1 1 7 0 0 0 0 0 9
Ohdo syndrome, X-linked 3 0 3 0 0 0 0 0 6
Adenocarcinoma of prostate 0 2 0 0 0 0 0 0 2
Adenocarcinoma of stomach 0 2 0 0 0 0 0 0 2
Neoplasm of the breast 0 2 0 0 0 0 0 0 2
Pancreatic adenocarcinoma 0 2 0 0 0 0 0 0 2
Squamous cell lung carcinoma 0 2 0 0 0 0 0 0 2
X-linked mental retardation with marfanoid habitus syndrome 1 1 0 0 0 0 0 0 2
Angiosarcoma 0 0 0 0 0 0 1 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
Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability; Agenesis of corpus callosum 1 0 0 0 0 0 0 0 1
Intellectual functioning disability 0 0 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 0 0 1
Wilms Tumor 0 0 0 0 0 0 1 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
GeneDx 5 9 33 100 22 0 0 0 169
Invitae 0 0 40 36 25 0 0 0 101
Ambry Genetics 0 2 36 37 16 0 0 0 90
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 20 2 15 0 0 0 38
Genetic Services Laboratory, University of Chicago 0 1 14 11 2 0 0 0 28
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 28
PreventionGenetics 0 0 0 6 6 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
ITMI 0 0 0 0 0 0 0 6 6
OMIM 5 0 0 0 0 0 0 0 5
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
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 2 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 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 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 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 for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 0 1

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