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
158 30 613 424 146 581 1581

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 1 84 16 420 184 111 0 810
Tuberous sclerosis syndrome 0 2 89 83 21 548 708
not specified 0 0 12 176 49 24 217
Hereditary cancer-predisposing syndrome 11 1 99 86 18 0 215
not provided 85 10 77 8 19 3 198
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 8 415 183 106 0 771
Tuberous sclerosis database (TSC1) 0 0 0 0 0 570 570
GeneDx 75 6 42 149 42 0 314
Ambry Genetics 12 1 105 97 17 0 232
Illumina Clinical Services Laboratory,Illumina 0 0 88 83 21 0 192
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 24 11 16 0 55
Athena Diagnostics Inc 32 3 3 1 11 0 50
PreventionGenetics 0 0 0 21 19 0 40
ITMI 0 0 0 0 0 24 24
Center for Human Genetics, Inc 7 7 1 1 1 0 17
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 10 4 2 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 3 9 0 15
Integrated Genetics/Laboratory Corporation of America 0 1 1 1 12 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 3 0 4 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 2 3 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 6
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
Gharavi Laboratory,Columbia University 0 0 1 0 1 0 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
CSER_CC_NCGL; University of Washington Medical Center 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1

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