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
352 73 1334 1130 424 2 2 1645 3896

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Tuberous sclerosis 2 186 32 987 525 369 0 0 2 2087
Tuberous sclerosis syndrome 4 1 73 86 5 0 0 1587 1660
not specified 2 0 58 540 164 0 0 57 711
Hereditary cancer-predisposing syndrome 24 4 256 290 38 0 0 0 611
not provided 191 37 195 21 39 0 0 3 475
History of neurodevelopmental disorder 2 0 19 20 0 0 0 0 41
Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 7 2 26 0 0 0 0 0 35
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
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 and lymphangiomyomatosis 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 133 17 973 523 364 0 0 0 2010
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 1613 1613
GeneDx 162 26 119 455 128 0 0 0 890
Ambry Genetics 27 4 275 309 36 0 0 0 651
Athena Diagnostics Inc 74 13 25 2 47 0 0 0 161
Illumina Clinical Services Laboratory,Illumina 0 0 62 84 4 0 0 0 150
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
ITMI 0 0 0 0 0 0 0 57 57
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 10 11 21 0 0 0 43
Genetic Services Laboratory, University of Chicago 0 0 6 25 1 0 0 0 32
Integrated Genetics/Laboratory Corporation of America 1 0 2 1 27 0 0 0 31
Biesecker Lab/Human Development 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 3 1 16 0 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 1 4 11 0 0 0 19
OMIM 18 0 0 0 0 0 0 0 18
CSER_CC_NCGL; University of Washington Medical Center 0 0 13 4 1 0 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 10 0 0 0 0 0 15
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 5 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 2 0 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 2 1 2 0 0 0 0 0 5
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
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
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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 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.