ClinVar Miner

Variants in gene TSC2

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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 drug response other not provided total
415 93 1690 1760 663 2 2 1646 4790

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
not provided 205 40 230 985 612 0 0 4 1892
Tuberous sclerosis syndrome 12 3 73 86 5 0 0 1587 1661
Tuberous sclerosis 2 236 46 980 141 43 0 0 2 1435
Hereditary cancer-predisposing syndrome 25 4 601 578 43 0 0 0 1250
not specified 2 0 57 541 165 0 0 57 711
History of neurodevelopmental disorder 2 0 18 21 0 0 0 0 41
Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 8 3 28 0 0 0 0 0 39
Lymphangiomyomatosis 2 0 1 0 0 0 0 21 22
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
Craniopharyngioma 0 0 3 0 0 0 0 0 3
Focal cortical dysplasia type II 1 0 2 0 0 0 0 0 3
Everolimus response 0 0 0 0 0 2 0 0 2
Seizures 0 0 2 0 0 0 0 0 2
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 1 0 0 0 0 0 1
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; 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
T Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 0 0 1
TSC2-Related Disorder 0 0 0 0 0 0 0 1 1
Tuberous sclerosis 1 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: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 172 28 962 1006 583 0 0 0 2751
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 1613 1613
Ambry Genetics 28 4 619 598 41 0 0 0 1290
GeneDx 172 28 119 547 156 0 0 0 1022
Athena Diagnostics Inc 79 14 30 5 54 0 0 0 182
Illumina Clinical Services Laboratory,Illumina 0 0 62 84 4 0 0 0 150
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 0 0 45 20 0 0 0 0 65
ITMI 0 0 0 0 0 0 0 57 57
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 8 1 10 11 25 0 0 0 55
Mendelics 14 4 2 10 7 0 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 2 6 23 0 0 0 34
Genetic Services Laboratory, University of Chicago 0 0 6 25 1 0 0 0 32
Integrated Genetics/Laboratory Corporation of America 1 0 1 2 27 0 0 0 31
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 12 11 4 0 0 0 27
Center for Human Genetics, Inc 11 7 5 0 0 0 0 0 23
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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 5 0 0 0 10
Gharavi Laboratory,Columbia University 0 1 9 0 0 0 0 0 10
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
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
Baylor Genetics 2 1 0 0 0 0 0 0 3
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 1 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 0 2 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: 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 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
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
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

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