ClinVar Miner

Variants in gene MED13L

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 not provided total
123 51 101 104 31 2 392

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 49 16 19 60 11 0 154
Transposition of the great arteries, dextro-looped 1 13 3 47 44 20 1 126
Mental retardation and distinctive facial features with or without cardiac defects 48 15 23 2 0 0 87
Inborn genetic diseases 12 3 7 0 0 0 22
Intellectual disability 8 4 1 5 0 0 18
See cases 2 5 2 1 0 0 10
Rare genetic intellectual disability 0 4 0 0 0 0 4
Transposition of the great arteries, dextro-looped 1; Mental retardation and distinctive facial features with or without cardiac defects 2 1 1 0 0 0 4
not specified 0 0 2 2 0 0 4
MED13L-related neurodevelopmental disorder 1 1 0 0 0 0 2
none provided 0 1 1 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
Chromatinopathy 1 0 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Global developmental delay; Generalized hypotonia 1 0 0 0 0 0 1
Hypertelorism; Robin sequence; Scoliosis; Hirsutism; Bulbous nose; Flat occiput; Wide nasal bridge; Strabismus; Intellectual disability, mild; Metatarsus adductus; Equinovarus deformity; Camptodactyly; Developmental delay; Smooth philtrum 1 0 0 0 0 0 1
Kabuki-like syndrome 0 1 0 0 0 0 1
MED13L-Related Disorder 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
Motor delay; Delayed speech and language development; Vesicoureteral reflux; Strabismus 1 0 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 3 46 88 26 0 172
GeneDx 30 14 3 1 0 0 48
Ambry Genetics 12 3 7 0 0 0 22
GenomeConnect - Simons Searchlight 17 3 2 0 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 10 4 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 2 2 7 1 0 0 12
Baylor Genetics 6 0 5 0 0 0 11
Diagnostic Laboratory, Strasbourg University Hospital 7 3 1 0 0 0 11
OMIM 10 0 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 4 0 0 7
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 6 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 3 0 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 3 1 1 0 0 0 5
ISCA site 1 0 2 2 1 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 4 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 1 1 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 0 0 2
Lineagen, Inc 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 1 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Laboratory of Human Genetics,Universidade de São Paulo 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 2
Institute of Medical Genetics,University of Zurich 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Autoinflammatory diseases unit,CHU de Montpellier 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Agency for Science, Technology and Research,Genome Institute of Singapore 1 0 0 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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