ClinVar Miner

Variants in gene TSC1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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
689 176 2897 2154 863 616 5702

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tuberous sclerosis 1 548 102 1873 1720 795 3 4347
Hereditary cancer-predisposing syndrome 84 24 1472 982 90 0 2568
Tuberous sclerosis syndrome 49 13 500 296 90 548 1373
not provided 170 31 420 275 117 5 935
Isolated focal cortical dysplasia type II 5 6 217 28 81 0 336
not specified 0 0 33 154 80 24 239
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 14 5 123 56 10 0 205
TSC1-related disorder 12 4 47 68 1 0 132
Malignant tumor of urinary bladder 7 0 2 0 0 38 47
Lymphangiomyomatosis 7 0 1 0 1 1 9
Ovarian cancer 0 1 0 0 7 0 8
Lymphangiomyomatosis; Tuberous sclerosis syndrome 0 0 0 0 0 5 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 4 4
See cases 2 2 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 1 0 0 2 3
Autism spectrum disorder 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Neoplasm 0 2 1 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Craniopharyngioma 0 0 2 0 0 0 2
Gastric cancer 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Hereditary cancer 0 0 0 2 0 0 2
Intellectual disability 0 0 1 1 0 0 2
Malignant tumor of breast 0 0 0 0 2 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Astrocytoma; Kidney angiomyolipoma; Angiofibromas 0 0 1 0 0 0 1
Autosomal dominant epilepsy 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Cleft palate 0 0 0 1 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Cortical tubers; Adenoma sebaceum 0 1 0 0 0 0 1
Diffuse glioma, H3 G34 mutant 0 1 0 0 0 0 1
Epilepsy 0 0 0 0 1 0 1
Focal cortical dysplasia of Taylor type 2B 0 0 1 0 0 0 1
Hearing impairment 0 0 0 1 0 0 1
Keratoconus 0 1 0 0 0 0 1
Kidney failure 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Lung lymphangioleiomyomatosis 0 0 0 0 1 0 1
Lymphangiomyomatosis; Tuberous sclerosis 1 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Neuroblastoma 0 0 1 0 0 0 1
Primitive neuroectodermal tumor 0 0 1 0 0 0 1
Renal insufficiency; Renal cortical cysts; Cortical dysplasia 1 0 0 0 0 0 1
Seizure 0 0 1 0 0 0 1
Seizure; Cardiac rhabdomyoma; Hamartoma 1 0 0 0 0 0 1
Seizure; Multiple renal cysts; Cortical tubers 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Tuberous sclerosis syndrome; Lung lymphangioleiomyomatosis 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 143
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 466 39 1634 1536 305 0 3980
Ambry Genetics 84 24 1413 966 47 0 2534
Myriad Genetics, Inc. 22 9 0 242 516 0 789
GeneDx 119 12 258 245 115 0 749
All of Us Research Program, National Institutes of Health 3 1 369 169 44 0 586
Genome-Nilou Lab 58 3 154 155 215 0 585
Tuberous sclerosis database (TSC1) 0 0 0 0 0 570 570
Color Diagnostics, LLC DBA Color Health 3 0 218 192 78 0 491
Sema4, Sema4 0 0 81 76 58 0 215
Illumina Laboratory Services, Illumina 1 0 106 44 81 0 202
CeGaT Center for Human Genetics Tuebingen 21 4 39 115 8 0 187
Fulgent Genetics, Fulgent Genetics 10 4 120 45 3 0 182
PreventionGenetics, part of Exact Sciences 11 4 47 89 20 0 171
Baylor Genetics 6 6 127 1 0 0 140
Quest Diagnostics Nichols Institute San Juan Capistrano 7 1 66 10 33 0 117
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 4 22 27 33 0 98
Athena Diagnostics 46 6 4 1 23 0 80
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 45 2 4 6 2 0 59
Eurofins Ntd Llc (ga) 4 0 24 11 16 0 55
Breakthrough Genomics, Breakthrough Genomics 0 0 3 17 33 0 53
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 0 8 15 19 0 50
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 8 35 0 44
Mayo Clinic Laboratories, Mayo Clinic 12 4 5 4 19 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 2 2 8 16 15 0 43
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 37 37
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 3 4 24 0 35
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 2 3 5 10 0 31
Clinical Genetics, Academic Medical Center 0 0 1 14 11 0 26
ITMI 0 0 0 0 0 24 24
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 14 0 5 3 1 0 23
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 22 0 0 0 23
Genetic Services Laboratory, University of Chicago 1 1 5 9 6 0 22
Mendelics 10 0 4 4 3 0 21
3billion 7 9 1 2 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 11 6 2 0 0 0 19
Revvity Omics, Revvity 6 2 11 0 0 0 19
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 7 1 1 1 0 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 9 7 0 17
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 14 3 0 0 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 4 2 0 16
Oasi Research Institute-IRCCS 16 0 0 0 0 0 16
Molecular Pathology, Peter Maccallum Cancer Centre 5 2 7 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 3 4 1 0 0 13
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 9 0 0 0 11
OMIM 9 0 2 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 5 3 0 10
MGZ Medical Genetics Center 5 2 3 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 2 0 0 0 9
Dasa 4 0 1 2 2 0 9
Laboratory of Urology, Hospital Clinic de Barcelona 7 0 2 0 0 0 9
NHS Central & South Genomic Laboratory Hub 8 1 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 3 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 8 0 0 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 6 1 0 8
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 7 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 3 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 3 1 1 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 4 1 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 3 2 1 0 0 0 6
Variantyx, Inc. 4 2 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 1 1 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 4 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Department of Neurology, Zibo Changguo Hospital 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 2 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 4 0 4
MVZ Medizinische Genetik Mainz 1 2 1 0 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 1 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 2 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 2 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 0 0 2 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 1 0 1 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 2 0 2
New York Genome Center 0 0 2 0 0 0 2
Vantari Genetics 0 0 0 0 2 0 2
Academic Department of Medical Genetics, University of Cambridge 0 0 1 0 0 0 1
Arcensus 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 1 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 0 1 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Navigene Genetic Science Pvt Ltd 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Rare Disease Center, Seoul National University Hospital 0 1 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Swedish National ChiCaP Initative, Genomic Medicine Sweden 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1

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