ClinVar Miner

Variants studied for Tuberous sclerosis 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
555 102 1888 1720 795 3 4369

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC1 548 102 1873 1720 795 3 4347
TSC2 5 0 2 0 0 0 7
​intergenic 0 0 2 0 0 0 2
CEL, GFI1B, GTF3C5, TSC1 0 0 2 0 0 0 2
LOC130002883, LOC130002884, TSC1 0 0 2 0 0 0 2
PI4KA 0 0 2 0 0 0 2
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 1
ABO, ADAMTS13, ADAMTSL2, BRD3, CACFD1, CEL, DBH, FAM163B, GBGT1, GFI1B, GTF3C5, MED22, MYMK, OBP2B, RALGDS, REXO4, RNU6ATAC, RPL7A, SARDH, SLC2A6, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, VAV2, WDR5 0 0 1 0 0 0 1
ABO, ADAMTS13, ADAMTSL2, CACFD1, CEL, DBH, FAM163B, GBGT1, GFI1B, GTF3C5, MED22, MYMK, OBP2B, RALGDS, REXO4, RPL7A, SARDH, SLC2A6, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, VAV2 0 0 1 0 0 0 1
AK8, GFI1B, GTF3C4, LOC111365185, LOC113839536, LOC116216102, LOC130002881, LOC130002882, LOC130002883, LOC130002884, MIR548AW, SPACA9, TSC1 1 0 0 0 0 0 1
AK8, SPACA9, TSC1 1 0 0 0 0 0 1
GFI1B, MIR548AW, TSC1 0 0 1 0 0 0 1
GFI1B, TSC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 466 39 1645 1535 304 0 3989
Myriad Genetics, Inc. 22 9 0 242 516 0 789
Genome-Nilou Lab 58 3 154 155 215 0 585
Illumina Laboratory Services, Illumina 1 0 106 31 64 0 202
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 46 2 4 6 2 0 60
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 8 35 0 44
Athena Diagnostics 19 0 0 0 5 0 24
Institute of Human Genetics, University of Leipzig Medical Center 13 6 1 0 0 0 20
3billion 7 9 1 0 0 0 17
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 7 1 1 1 0 17
Mendelics 10 0 3 2 2 0 17
Oasi Research Institute-IRCCS 16 0 0 0 0 0 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 15 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 3 6 0 0 0 14
Molecular Pathology, Peter Maccallum Cancer Centre 5 2 7 0 0 0 14
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 9 0 0 0 11
MGZ Medical Genetics Center 6 2 3 0 0 0 11
Baylor Genetics 3 1 5 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 3 3 0 9
Neuberg Centre For Genomic Medicine, NCGM 3 4 2 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 3 0 0 0 9
OMIM 6 0 1 0 0 0 7
Variantyx, Inc. 4 2 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 4 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 0 0 0 0 5
Department of Neurology, Zibo Changguo Hospital 4 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 2 1 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Department of Medical Genetics, University of Pecs 0 1 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Arcensus 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 1 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1

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