ClinVar Miner

Variants in gene MED13L

Minimum submission review status: Collection method:
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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
71 29 42 21 21 1 178

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 13 11 5 5 0 65
Transposition of the great arteries, dextro-looped 1 7 3 23 13 16 1 61
Mental retardation and distinctive facial features with or without cardiac defects 22 6 3 0 0 0 31
Inborn genetic diseases 8 2 3 0 0 0 13
See cases 1 4 2 1 0 0 8
Intellectual disability 1 1 0 1 0 0 3
Transposition of the great arteries, dextro-looped 1; Mental retardation and distinctive facial features with or without cardiac defects 1 1 1 0 0 0 3
not specified 0 0 1 2 0 0 3
Ductal breast carcinoma 0 0 1 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
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 3 22 13 16 0 58
GeneDx 24 13 3 1 0 0 41
Ambry Genetics 8 2 3 0 0 0 13
OMIM 10 0 0 0 0 0 10
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 5
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 4 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 0 3
Division of Genomic Diagnostics,The 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 0 1 0 0 3
Lineagen Inc. 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 0 0 0 0 2
Institute of Human Genetics,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
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
Diagnostic Laboratory,Strasbourg University Hospital 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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

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