ClinVar Miner

Variants in gene MTOR

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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
27 33 1012 1390 502 9 2783

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 9 881 1343 502 5 2645
Inborn genetic diseases 3 1 69 23 0 0 96
MTOR-related disorder 1 0 28 62 5 0 96
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 12 16 42 4 7 1 81
not specified 0 0 17 17 10 0 44
Isolated focal cortical dysplasia type II 11 1 15 1 0 0 28
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 9 2 11 5 1 0 28
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 8 7 0 1 17
CEBALID syndrome 6 5 0 0 0 0 11
Intellectual disability 1 0 0 1 0 0 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
Papillary renal cell carcinoma type 1 1 0 0 1 0 0 2
Abnormality of the skeletal system; Abnormal facial shape; Macrocephaly 0 0 1 0 0 0 1
Autism spectrum disorder 0 0 0 1 0 0 1
Autosomal dominant epilepsy 1 0 0 0 0 0 1
Hemimegalencephaly 1 0 0 0 0 0 1
Intellectual disability, severe 1 0 0 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
Rare genetic intellectual disability 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 688 1226 344 0 2265
GeneDx 6 5 171 107 217 0 506
CeGaT Center for Human Genetics Tuebingen 2 3 51 70 14 0 140
Breakthrough Genomics, Breakthrough Genomics 0 0 1 25 83 0 109
Ambry Genetics 3 1 69 23 0 0 96
PreventionGenetics, part of Exact Sciences 0 0 28 62 5 0 95
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 14 14 0 0 28
ClinGen Brain Malformations Variant Curation Expert Panel 8 2 8 5 1 0 24
Clinical Genomics Laboratory, Washington University in St. Louis 6 1 12 0 0 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 12 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 9 2 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 7 5 0 0 12
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 5 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 6 0 11
Clinical Genetics, Academic Medical Center 0 0 0 5 6 0 11
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity 0 0 10 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 2 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
3billion 1 4 1 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 6 0 0 0 6
New York Genome Center 0 1 5 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 2 2 1 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 2 0 0 0 5
James Howe Lab, University of Iowa Hospital and Clinics 0 0 0 0 0 4 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
Mendelics 1 1 0 1 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 2 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, University of Goettingen 0 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 1 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Heinzen Lab, Columbia University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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