ClinVar Miner

Variants in gene TSC2

See also:
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 drug response other not provided total
617 143 2680 1978 685 2 2 1646 6107

Condition and significance breakdown #

Total conditions: 35
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Tuberous sclerosis 2 438 97 2051 1151 599 0 0 2 4278
Tuberous sclerosis syndrome 12 3 121 79 53 0 0 1587 1726
Hereditary cancer-predisposing syndrome 25 4 580 598 44 0 0 0 1250
not provided 222 41 244 379 78 0 0 4 938
not specified 2 0 55 543 165 0 0 57 710
none provided 0 2 5 11 26 0 0 0 44
History of neurodevelopmental disorder 2 0 15 24 0 0 0 0 41
Lymphangiomyomatosis 10 1 9 1 1 0 0 21 41
Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 8 3 28 0 0 0 0 0 39
Lymphangiomyomatosis; Tuberous sclerosis syndrome 0 0 0 0 0 0 0 19 19
Autism spectrum disorder 0 1 0 0 0 0 0 12 13
Focal cortical dysplasia type II 1 0 4 0 0 0 0 0 5
Craniopharyngioma 0 0 3 0 0 0 0 0 3
Seizures 0 0 3 0 0 0 0 0 3
Everolimus response 0 0 0 0 0 2 0 0 2
Intellectual disability 0 0 2 0 0 0 0 0 2
Tuberous sclerosis 1 1 0 1 0 0 0 0 0 2
Autism spectrum disorder; Tuberous sclerosis syndrome 1 0 0 0 0 0 0 0 1
B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 0 0 1 0 0 0 0 0 1
Cortical tubers 0 1 0 0 0 0 0 0 1
Cortical tubers; Focal cortical dysplasia 1 0 0 0 0 0 0 0 1
Cortical tubers; Neoplasm 0 1 0 0 0 0 0 0 1
Dental enamel pits; Hamartoma 1 0 0 0 0 0 0 0 1
Ganglioneuroblastoma 0 0 1 0 0 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 0 1
Intellectual disability, severe; Infantile spasms 1 0 0 0 0 0 0 0 1
Neoplasm of brain 0 0 0 0 0 0 0 1 1
Neuroblastoma 0 0 0 0 0 0 1 0 1
Osteoblastic osteosarcoma 0 0 1 0 0 0 0 0 1
Osteosarcoma 0 0 0 0 0 0 1 0 1
Retinoblastoma 0 0 1 0 0 0 0 0 1
TSC2-Related Disorder 0 0 0 0 0 0 0 1 1
Tall stature; Cafe-au-lait spot; Joint hypermobility; Arthralgia; Hyperextensible hand joints; Hyperextensibility at elbow 0 0 1 0 0 0 0 0 1
Tuberous sclerosis and lymphangiomyomatosis 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 336 67 2012 1241 599 0 0 0 4255
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 1613 1613
Ambry Genetics 28 4 595 621 42 0 0 0 1290
GeneDx 172 28 118 548 156 0 0 0 1022
Illumina Clinical Services Laboratory,Illumina 0 0 111 78 53 0 0 0 242
Athena Diagnostics Inc 83 14 32 6 58 0 0 0 193
PreventionGenetics, PreventionGenetics 0 0 0 67 62 0 0 0 129
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 2 64 28 21 0 0 0 123
CeGaT Praxis fuer Humangenetik Tuebingen 16 2 51 43 0 0 0 0 112
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 59 8 6 6 0 0 0 0 79
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 1 8 15 25 0 0 0 57
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 7 15 30 0 0 0 57
ITMI 0 0 0 0 0 0 0 57 57
Mendelics 14 4 2 10 7 0 0 0 37
Integrated Genetics/Laboratory Corporation of America 1 0 2 4 29 0 0 0 36
Genetic Services Laboratory, University of Chicago 0 0 6 25 1 0 0 0 32
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 12 11 4 0 0 0 27
Center for Human Genetics, Inc,Center for Human Genetics, Inc 11 7 5 0 0 0 0 0 23
Baylor Genetics 6 1 15 0 0 0 0 0 22
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 4 10 5 0 0 0 21
Fulgent Genetics,Fulgent Genetics 3 1 16 0 0 0 0 0 20
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 1 8 1 1 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 2 12 0 0 0 0 0 19
OMIM 18 0 0 0 0 0 0 0 18
CSER _CC_NCGL, University of Washington 0 0 13 4 1 0 0 0 18
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 1 5 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 2 0 0 0 0 10
Gharavi Laboratory,Columbia University 0 1 9 0 0 0 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 5 0 0 0 0 0 8
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 8 0 0 0 0 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 2 2 0 0 0 0 0 7
Molecular Biology Laboratory, Fundació Puigvert 6 1 0 0 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 2 0 0 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 1 0 0 0 0 6
GeneReviews 5 0 0 0 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 0 0 0 4
Institute of Human Genetics,Cologne University 2 0 1 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 0 3
Vantari Genetics 0 0 0 1 2 0 0 0 3
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 0 0 3 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Division of Hematology/Oncology, Florida,Mayo Clinic 0 0 0 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 0 2
Liping Wei Laboratory,Peking University 1 1 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Warsaw Genomics 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 0 1
Department of Medical Genetics,University of Pecs 0 0 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 0 1 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.