ClinVar Miner

Variants in gene MED13L

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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 not provided total
212 108 575 575 223 6 1541

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Transposition of the great arteries, dextro-looped 32 4 213 434 154 1 837
not provided 77 27 191 127 102 0 502
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 90 49 108 16 1 1 258
Inborn genetic diseases 17 4 73 70 0 0 164
MED13L-related disorder 1 8 25 45 6 4 89
not specified 3 1 15 2 5 0 26
Intellectual disability 8 6 1 5 0 0 20
See cases 3 5 7 1 0 0 16
Impaired intellectual development and distinctive facial features with cardiac defects 4 0 0 0 0 0 4
Neurodevelopmental disorder 3 0 1 0 0 0 4
Rare genetic intellectual disability 0 4 0 0 0 0 4
Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 1 1 0 0 0 4
MED13L-related neurodevelopmental disorder 2 1 0 0 0 0 3
Global developmental delay 1 1 0 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Chromatinopathy 1 0 0 0 0 0 1
Global developmental delay; Generalized hypotonia 1 0 0 0 0 0 1
Hypertelorism; Isolated Pierre-Robin syndrome; 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
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

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 4 211 447 155 0 848
GeneDx 47 20 142 51 100 0 360
Ambry Genetics 17 4 73 70 0 0 164
CeGaT Center for Human Genetics Tuebingen 9 1 33 54 4 0 101
PreventionGenetics, part of Exact Sciences 0 8 25 45 6 0 84
Breakthrough Genomics, Breakthrough Genomics 0 0 1 18 22 0 41
Revvity Omics, Revvity 0 0 28 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 1 5 4 0 0 22
GenomeConnect - Simons Searchlight 17 3 2 0 0 0 22
3billion 5 9 2 3 0 0 19
Baylor Genetics 6 1 10 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 13 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 3 3 10 1 0 0 17
Diagnostic Laboratory, Strasbourg University Hospital 7 3 1 0 0 0 11
OMIM 8 0 2 0 0 0 10
Quest Diagnostics Nichols Institute San Juan Capistrano 5 2 3 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 1 0 4 0 0 10
New York Genome Center 1 0 9 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 10 0 0 0 10
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 8 0 1 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 8 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 1 6 1 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 1 0 7
Illumina Laboratory Services, Illumina 3 3 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 4 1 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 3 0 0 0 6
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 3 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 2 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 4 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 2 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Eurofins Ntd Llc (ga) 1 0 2 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 0 3 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 1 0 0 0 2
Mendelics 1 0 0 0 1 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 1 1 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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