ClinVar Miner

Variants studied for Tuberous sclerosis 2

Coded as:
Minimum submission review status: Collection method:
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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
1039 271 3749 4025 2591 30 9831

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 988 270 3708 4018 2572 12 9702
NTHL1, TSC2 12 0 17 0 0 0 29
MIR1225, PKD1, TSC2 17 0 7 0 0 0 24
PKD1, TSC2 2 0 4 7 18 0 24
SERPINC1 0 0 0 0 0 18 18
LOC130058210, TSC2 0 1 7 0 0 0 7
MIR1225, MIR6511B1, PKD1, TSC2 4 0 0 0 0 0 4
LOC130058209, LOC130058210, NTHL1, TSC2 1 0 2 0 0 0 3
MIR1225, NTHL1, PKD1, TSC2 1 0 1 0 0 0 2
VHL 1 0 0 0 1 0 2
ANTKMT, BAIAP3, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 1 0 0 0 0 0 1
ANTKMT, BAIAP3, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 1 0 0 0 0 0 1
BAIAP3, CACNA1H, CCDC154, CLCN7, CRAMP1, EME2, FAHD1, GFER, GNPTG, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MIR1225, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PKD1, PTX4, RNF151, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, UQCC4, ZNF598 1 0 0 0 0 0 1
BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, LOC112340386, LOC112340387, LOC129390754, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, PGP, PKD1, RAB26, SNHG19, SNORD60, TRAF7, TSC2 1 0 0 0 0 0 1
BRICD5, CASKIN1, DNASE1L2, E4F1, MIR1225, MLST8, PGP, PKD1, RAB26, TRAF7, TSC2 1 0 0 0 0 0 1
BRICD5, CASKIN1, LOC112340386, LOC112340387, LOC129390754, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, NTHL1, PGP, PKD1, RAB26, SNHG19, SNORD60, TRAF7, TSC2 1 0 0 0 0 0 1
CFAP20DC 0 0 1 0 0 0 1
CRAMP1, EME2, FAHD1, GFER, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, RNF151, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBL3, TMEM204, TSC2, ZNF598 1 0 0 0 0 0 1
CRAMP1, EME2, FAHD1, GFER, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, RNF151, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBL3, TSC2, ZNF598 0 0 1 0 0 0 1
GFER, HS3ST6, LINC00254, LINC02124, LOC116268480, LOC121530610, LOC125146375, LOC125146377, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, MEIOB, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, PKD1, RNF151, RPL3L, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598 1 0 0 0 0 0 1
GFER, HS3ST6, LOC116268480, LOC121530610, LOC125146375, LOC125146377, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, PKD1, RNF151, RPL3L, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598 1 0 0 0 0 0 1
GFER, MIR1225, NHERF2, NPW, NTHL1, PKD1, SYNGR3, TSC2, ZNF598 1 0 0 0 0 0 1
GFER, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, RNF151, RPL3L, RPS2, SNHG9, SYNGR3, TBL3, TSC2, ZNF598 1 0 0 0 0 0 1
GFER, NHERF2, NPW, NTHL1, SYNGR3, TSC2, ZNF598 1 0 0 0 0 0 1
NHERF2, NTHL1, TSC2 1 0 0 0 0 0 1
TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 102
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 866 116 3347 3578 1373 0 9280
Myriad Genetics, Inc. 12 9 0 729 1487 0 2237
Genome-Nilou Lab 93 28 387 404 729 0 1641
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 27 116 0 143
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 88 16 6 6 0 0 116
3billion 27 20 13 0 0 0 60
Revvity Omics, Revvity 9 9 41 0 0 0 59
Athena Diagnostics 34 4 0 0 20 0 58
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 46 0 0 0 46
Mendelics 14 4 2 10 7 0 37
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 17 6 11 2 0 0 36
Institute of Human Genetics, University of Leipzig Medical Center 15 8 10 2 0 0 35
Center for Human Genetics, Inc, Center for Human Genetics, Inc 11 7 5 0 0 0 23
Baylor Genetics 6 1 14 0 0 0 21
Clinical Genomics Laboratory, Washington University in St. Louis 5 2 13 0 0 0 20
Oasi Research Institute-IRCCS 17 3 0 0 0 0 20
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 0 0 0 0 0 18 18
Neuberg Centre For Genomic Medicine, NCGM 6 8 4 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 6 1 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 10 6 1 0 0 0 17
Molecular Pathology, Peter Maccallum Cancer Centre 8 0 8 1 0 0 17
Johns Hopkins Genomics, Johns Hopkins University 1 0 9 2 4 0 16
OMIM 16 0 0 0 0 0 16
Dasa 7 0 1 2 3 0 13
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 3 9 0 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 4 3 0 11
MVZ Medizinische Genetik Mainz 4 1 6 0 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 5 0 10
MGZ Medical Genetics Center 3 0 7 0 0 0 10
New York Genome Center 0 0 10 0 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 5 0 0 0 8
GeneReviews 0 0 0 0 0 7 7
Molecular Biology Laboratory, Fundació Puigvert 6 1 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 2 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 4 1 1 0 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 1 0 0 0 0 5
deCODE genetics, Amgen 0 5 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 3 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 3 1 0 0 0 0 4
Institute of Human Genetics, Cologne University 2 0 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 0 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 2 2 0 0 0 0 4
Variantyx, Inc. 4 0 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 2 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Illumina Laboratory Services, Illumina 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Suma Genomics 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Hereditary Cancer Clinic, Medical College of Georgia 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Otogenetics 0 0 2 0 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
CGC Genetics, Unilabs 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 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
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Neurology Department, Shenzhen Children's Hospital 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Warsaw Genomics 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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