ClinVar Miner

Variants in gene MTOR

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Gene type:

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
29 44 1138 1474 523 84 3069

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 11 968 1426 523 5 2823
Inborn genetic diseases 3 1 117 29 0 0 150
MTOR-related disorder 1 1 28 62 5 0 97
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 13 21 51 4 7 2 94
not specified 0 0 26 36 24 0 85
Isolated focal cortical dysplasia type II 11 2 16 1 0 0 30
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 10 2 11 5 1 0 29
Ovarian serous cystadenocarcinoma 0 0 0 0 0 20 20
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2 0 8 7 0 1 18
CEBALID syndrome 6 5 0 0 0 0 11
Lung cancer 0 0 0 0 0 8 8
Malignant tumor of esophagus 0 0 0 0 0 7 7
Cervical cancer 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Neoplasm 0 3 2 0 0 0 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Intellectual disability 1 1 0 2 0 0 4
Papillary renal cell carcinoma type 1 1 0 0 1 0 2 4
Sarcoma 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Hemimegalencephaly 2 0 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Neurodevelopmental disorder 0 0 2 0 0 0 2
Neurodevelopmental disorder, MTOR related 0 0 0 0 0 2 2
Overgrowth syndrome 0 1 1 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Abnormality of the skeletal system; Abnormal facial shape; Macrocephaly 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Autism spectrum disorder 0 0 0 1 0 0 1
Autosomal dominant epilepsy 1 0 0 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 1 0 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
MTOR-related megalencephaly and pigmentary mosaicism in skin 1 0 0 0 0 0 1
Macrocephaly 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Neuroendocrine tumor of pancreas 0 1 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Rare genetic intellectual disability 1 0 0 0 0 0 1
Rhabdomyosarcoma 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 1
Severe intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 742 1296 365 0 2410
GeneDx 6 6 198 107 217 0 534
CeGaT Center for Human Genetics Tuebingen 2 3 63 101 13 0 182
Ambry Genetics 3 1 117 29 0 0 150
Breakthrough Genomics, Breakthrough Genomics 0 0 1 25 83 0 109
PreventionGenetics, part of Exact Sciences 0 0 28 62 5 0 95
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 74 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 23 30 2 0 56
ClinGen Brain Malformations Variant Curation Expert Panel 8 2 8 5 1 0 24
Clinical Genomics Laboratory, Washington University in St. Louis 6 2 16 0 0 0 24
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 19 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 6 8 0 16
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 5 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 7 5 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 12 0 0 12
Revvity Omics, Revvity 0 1 11 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 9 2 0 0 12
3billion 1 6 3 1 0 0 11
Clinical Genetics, Academic Medical Center 0 0 0 5 6 0 11
OMIM 10 0 0 0 0 0 10
Baylor Genetics 4 0 5 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 3 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 5 0 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 6 1 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 2 0 7
Genetic Services Laboratory, University of Chicago 0 0 3 2 1 0 6
New York Genome Center 0 1 5 0 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 2 1 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 2 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
James Howe Lab, University of Iowa Hospital and Clinics 0 0 0 0 0 4 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 2 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 3
Mendelics 1 1 0 1 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 1 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Heinzen Lab, Columbia University 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 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
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 0 1 0 0 0 1
Rare Disease Center, Seoul National University Hospital 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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