ClinVar Miner

Variants studied for Tuberous sclerosis 2

Coded as:
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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
961 243 3551 3739 1678 30 9152

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 912 242 3511 3735 1660 12 9027
NTHL1, TSC2 12 0 17 0 0 0 29
MIR1225, PKD1, TSC2 17 0 7 0 0 0 24
PKD1, TSC2 2 0 4 4 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 0 0 2 0 0 0 2
MIR1225, NTHL1, PKD1, TSC2 1 0 1 0 0 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

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 809 113 3208 3431 1303 0 8864
Genome-Nilou Lab 93 28 387 404 729 0 1641
Myriad Genetics, Inc. 7 6 0 152 69 0 234
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
Athena Diagnostics 34 4 0 0 23 0 61
Revvity Omics, Revvity 9 8 34 0 0 0 51
Mendelics 14 4 2 10 7 0 37
3billion 15 14 7 0 0 0 36
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 28 0 0 0 28
Institute of Human Genetics, University of Leipzig Medical Center 8 6 8 2 0 0 24
Center for Human Genetics, Inc, Center for Human Genetics, Inc 11 7 5 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 5 7 2 0 0 23
Baylor Genetics 6 1 14 0 0 0 21
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 3 0 0 0 17
OMIM 16 0 0 0 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 9 5 1 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 5 1 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 4 3 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
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 2 0 0 7
Molecular Biology Laboratory, Fundació Puigvert 6 1 0 0 0 0 7
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 6 0 0 0 0 6
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
MVZ Medizinische Genetik Mainz 3 0 3 0 0 0 6
deCODE genetics, Amgen 0 5 0 0 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 1 0 0 0 0 5
Institute of Human Genetics, Cologne University 2 0 2 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Suma Genomics 3 0 0 0 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
CGC Genetics, Unilabs 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Warsaw Genomics 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 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
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1

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