ClinVar Miner

Variants studied for tuberous sclerosis 2

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
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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
884 232 3438 3547 1554 30 8565

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 835 231 3400 3547 1554 12 8460
NTHL1, TSC2 12 0 18 0 0 0 30
MIR1225, PKD1, TSC2 17 0 7 0 0 0 24
SERPINC1 0 0 0 0 0 18 18
PKD1, TSC2 2 0 4 0 0 0 6
LOC130058210, TSC2 0 1 5 0 0 0 5
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
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: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 739 103 3104 3151 1181 0 8278
Genome-Nilou Lab 93 28 387 404 729 0 1641
Fulgent Genetics, Fulgent Genetics 16 6 119 149 3 0 293
Myriad Genetics, Inc. 7 6 0 151 69 0 233
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 88 16 6 6 0 0 116
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 27 85 0 112
Color Diagnostics, LLC DBA Color Health 1 2 14 29 60 0 106
Athena Diagnostics 35 6 0 0 25 0 66
Revvity Omics, Revvity 9 8 34 0 0 0 51
Mendelics 14 4 2 10 7 0 37
3billion 12 12 5 4 0 0 33
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 4 17 3 0 0 32
Juno Genomics, Hangzhou Juno Genomics, Inc 19 5 1 0 0 0 25
Center for Human Genetics, Inc, Center for Human Genetics, Inc 11 7 5 0 0 0 23
Institute of Human Genetics, University of Leipzig Medical Center 8 6 7 2 0 0 23
Baylor Genetics 6 1 14 0 0 0 21
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 21 0 0 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 5 8 2 0 0 19
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 0 0 0 0 0 18 18
OMIM 16 0 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 5 1 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 4 7 3 0 0 0 14
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 9 0 0 0 9
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
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
MVZ Medizinische Genetik Mainz 3 0 2 0 0 0 5
Institute of Human Genetics, Cologne University 2 0 2 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 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
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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 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
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
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
Molecular Genetics Lab, CHRU Brest 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
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

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