ClinVar Miner

Variants studied for Tuberous sclerosis 2

Coded as:
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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
842 204 3360 3405 1520 30 8478

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 803 203 3332 3405 1520 12 8392
NTHL1, TSC2 8 0 13 0 0 0 21
MIR1225, PKD1, TSC2 13 0 5 0 0 0 18
SERPINC1 0 0 0 0 0 18 18
LOC130058210, TSC2 0 1 4 0 0 0 5
MIR1225, MIR6511B1, PKD1, TSC2 4 0 0 0 0 0 4
PKD1, TSC2 1 0 3 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, 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
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: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 713 102 3092 3151 1181 0 8239
Genome-Nilou Lab 93 28 387 404 729 0 1641
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 Inc 35 6 0 0 25 0 66
Revvity Omics, Revvity Omics 9 8 34 0 0 0 51
Mendelics 14 4 2 10 7 0 37
3billion 12 11 6 0 0 0 29
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
Institute of Human Genetics, University of Leipzig Medical Center 7 5 5 2 0 0 19
Myriad Genetics, Inc. 4 4 0 4 7 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 16 0 0 0 16
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 3 1 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 5 0 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
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 2 0 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Illumina Laboratory Services, Illumina 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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
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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 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
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
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
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Department of Laboratory Medicine, 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
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
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

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