ClinVar Miner

Variants in gene TSC1

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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
546 121 2220 1708 457 585 4602

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tuberous sclerosis 1 455 75 1648 1430 391 2 3683
Hereditary cancer-predisposing syndrome 45 14 839 639 77 0 1537
not provided 135 22 240 220 102 5 665
Tuberous sclerosis syndrome 8 5 61 5 3 548 620
Isolated focal cortical dysplasia type II 3 5 238 32 84 0 361
not specified 0 0 18 130 67 24 197
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 7 2 43 38 3 0 93
Malignant tumor of urinary bladder 7 0 2 0 0 33 42
TSC1-related condition 3 1 19 0 0 0 23
Lymphangiomyomatosis 7 0 1 0 1 1 9
Ovarian cancer 0 1 0 0 7 0 8
Inborn genetic diseases 1 0 5 0 0 0 6
Lymphangiomyomatosis; Tuberous sclerosis syndrome 0 0 0 0 0 5 5
Autism spectrum disorder 0 0 0 0 0 3 3
See cases 1 2 0 0 0 0 3
Craniopharyngioma 0 0 2 0 0 0 2
Malignant tumor of breast 0 0 0 0 2 0 2
Seizure 1 0 1 0 0 0 2
Acute myeloid leukemia 0 0 1 0 0 0 1
Astrocytoma; Kidney angiomyolipoma; Angiofibromas 0 0 1 0 0 0 1
Autosomal dominant epilepsy 0 1 0 0 0 0 1
Cortical tubers; Adenoma sebaceum 0 1 0 0 0 0 1
Focal cortical dysplasia of Taylor type 2B 0 0 1 0 0 0 1
Keratoconus 0 1 0 0 0 0 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; Cardiac rhabdomyoma; Hamartoma 1 0 0 0 0 0 1
Seizure; Multiple renal cysts; Cortical tubers 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 394 38 1457 1317 257 0 3463
Ambry Genetics 45 14 787 621 33 0 1500
GeneDx 99 8 152 243 115 0 617
Genome-Nilou Lab 58 3 154 155 215 0 585
Tuberous sclerosis database (TSC1) 0 0 0 0 0 570 570
Illumina Laboratory Services, Illumina 0 0 164 49 84 0 267
Sema4, Sema4 0 0 81 76 58 0 215
CeGaT Center for Human Genetics Tuebingen 14 3 22 55 10 0 104
Baylor Genetics 6 6 91 0 0 0 103
Fulgent Genetics, Fulgent Genetics 6 1 42 38 3 0 90
Athena Diagnostics Inc 42 5 3 1 19 0 70
Preventiongenetics, part of Exact Sciences 3 1 19 21 19 0 63
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 8 8 24 0 46
Color Diagnostics, LLC DBA Color Health 2 0 7 10 25 0 44
Quest Diagnostics Nichols Institute San Juan Capistrano 3 0 10 2 22 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 0 5 10 14 0 35
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 3 4 24 0 35
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 8 22 0 31
Clinical Genetics, Academic Medical Center 0 0 1 14 11 0 26
ITMI 0 0 0 0 0 24 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 3 5 10 0 22
Genetic Services Laboratory, University of Chicago 0 1 4 9 6 0 20
Mendelics 10 0 4 2 3 0 19
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 7 1 1 1 0 17
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 14 3 0 0 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 9 7 0 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 4 2 0 16
Myriad Genetics, Inc. 9 2 0 2 2 0 15
Mayo Clinic Laboratories, Mayo Clinic 8 4 2 0 0 0 14
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 12 0 0 0 13
Revvity Omics, Revvity Omics 3 2 7 0 0 0 12
OMIM 9 0 2 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 5 5 1 0 0 0 11
MGZ Medical Genetics Center 5 2 3 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 5 3 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 2 0 0 0 9
Laboratory of Urology, Hospital Clinic de Barcelona 7 0 2 0 0 0 9
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
3billion 3 4 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 4 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 4 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Institute of Human Genetics, University Hospital Muenster 2 1 0 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 2 1 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Vantari Genetics 0 0 0 0 2 0 2
Center of Medical Genetics and Primary Health Care 0 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 1 0 1 0 2
New York Genome Center 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 2 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 1 0 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Arcensus 0 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 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
Rare Disease Center, Seoul National University Hospital 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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