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
199 40 743 648 254 583 1961

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tuberous sclerosis syndrome 4 2 89 83 21 548 710
not provided 95 11 87 336 225 4 690
Tuberous sclerosis 1 114 24 417 53 14 1 618
Hereditary cancer-predisposing syndrome 16 1 237 181 19 0 454
not specified 0 0 12 181 51 24 222
Focal cortical dysplasia type II 2 0 89 82 21 0 193
Bladder cancer, somatic 0 0 0 0 0 33 33
History of neurodevelopmental disorder 0 0 6 11 0 0 17
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
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
Lymphangiomyomatosis 1 0 0 0 0 1 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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 83 15 409 354 210 0 1071
Tuberous sclerosis database (TSC1) 0 0 0 0 0 570 570
Ambry Genetics 17 1 242 192 18 0 470
GeneDx 81 6 42 174 47 0 350
Illumina Clinical Services Laboratory,Illumina 0 0 88 83 21 0 192
Athena Diagnostics Inc 37 3 3 1 13 0 57
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 24 11 16 0 55
PreventionGenetics,PreventionGenetics 0 0 0 21 19 0 40
ITMI 0 0 0 0 0 24 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 16 6 0 0 24
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 0 3 5 10 0 22
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 6 8 0 16
Integrated Genetics/Laboratory Corporation of America 0 1 1 1 12 0 15
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
Fulgent Genetics,Fulgent Genetics 3 0 4 0 0 0 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 4 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 1 0 0 0 5
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
Vantari Genetics 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
Baylor Genetics 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 1 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
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Department of Medical Genetics,University of Pecs 0 1 0 0 0 0 1

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