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
308 60 1257 704 294 583 2634

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tuberous sclerosis 1 223 46 1000 456 261 1 1927
Tuberous sclerosis syndrome 4 2 59 5 3 548 614
Hereditary cancer-predisposing syndrome 16 1 231 187 19 0 454
not provided 103 11 94 133 31 4 366
Focal cortical dysplasia type II 2 0 153 32 84 0 270
not specified 0 0 13 182 52 24 225
Urinary bladder cancer 0 0 0 0 0 33 33
History of neurodevelopmental disorder 0 0 6 11 0 0 17
none provided 0 0 2 2 8 0 12
Lymphangiomyomatosis 7 0 1 0 0 1 8
Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 3 1 4 0 0 0 8
Lymphangiomyomatosis; Tuberous sclerosis syndrome 0 0 0 0 0 5 5
Autism spectrum disorder 0 0 0 0 0 3 3
Craniopharyngioma 0 0 2 0 0 0 2
Malignant tumor of breast 0 0 0 0 2 0 2
Acute myeloid leukemia 0 0 1 0 0 0 1
Astrocytoma; Renal angiomyolipoma; Angiofibromas 0 0 1 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
Inborn genetic diseases 1 0 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
See cases 1 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 1
Seizures; Cardiac rhabdomyoma; Hamartoma 1 0 0 0 0 0 1
Seizures; Multiple renal cysts; Cortical tubers 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 180 30 887 466 213 0 1776
Tuberous sclerosis database (TSC1) 0 0 0 0 0 570 570
Ambry Genetics 17 1 236 198 18 0 470
GeneDx 81 6 42 174 47 0 350
Illumina Clinical Services Laboratory,Illumina 0 0 164 49 84 0 267
Athena Diagnostics Inc 38 3 3 1 18 0 63
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 24 11 16 0 55
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 33 0 4 6 2 0 45
PreventionGenetics, PreventionGenetics 0 0 0 21 19 0 40
CeGaT Praxis fuer Humangenetik Tuebingen 9 2 22 6 0 0 39
ITMI 0 0 0 0 0 24 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 7 12 0 23
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 0 3 5 10 0 22
Integrated Genetics/Laboratory Corporation of America 0 1 2 2 17 0 22
Center for Human Genetics, Inc,Center for Human Genetics, Inc 7 7 1 1 1 0 17
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 4 2 0 16
Mendelics 8 0 3 2 2 0 15
OMIM 9 0 2 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 3 6 1 0 10
Baylor Genetics 4 1 4 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 1 2 0 0 0 9
Fulgent Genetics,Fulgent Genetics 3 0 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 4 0 5
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Molecular Biology Laboratory, Fundació Puigvert 2 1 0 0 0 0 3
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 1 0 1 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 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, Klinikum rechts der Isar 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 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
Diagnostics Lab (ASPIRE), 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

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