ClinVar Miner

Variants studied for Tuberous sclerosis 2

Coded as:
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
387 78 1627 800 593 20 3456

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 369 78 1621 800 593 2 3414
SERPINC1 0 0 0 0 0 18 18
MIR1225, PKD1, TSC2 6 0 1 0 0 0 7
LOC105371049, MIR1225, MIR6511B1, PKD1, TSC2 4 0 0 0 0 0 4
LOC105371049, MIR1225, PKD1, TSC2 3 0 0 0 0 0 3
NTHL1, TSC2 0 0 3 0 0 0 3
PKD1, TSC2 1 0 2 0 0 0 3
ANTKMT, BAIAP3, C16orf91, 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, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598 1 0 0 0 0 0 1
ANTKMT, BAIAP3, C16orf91, 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, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598 1 0 0 0 0 0 1
BAIAP3, C16orf91, CACNA1H, CCDC154, CLCN7, CRAMP1, EME2, FAHD1, GFER, GNPTG, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MIR1225, MRPS34, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NUBP2, PKD1, PTX4, RNF151, RPL3L, RPS2, SLC9A3R2, SNHG9, SPSB3, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, ZNF598 1 0 0 0 0 0 1
CRAMP1, EME2, FAHD1, GFER, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MRPS34, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NUBP2, RNF151, RPL3L, RPS2, SLC9A3R2, SNHG9, SPSB3, SYNGR3, TBL3, TMEM204, TSC2, ZNF598 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 287 49 1598 781 586 0 3301
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 58 8 6 6 0 0 78
Athena Diagnostics Inc 44 6 0 0 26 0 76
Mendelics 14 4 2 10 7 0 37
Center for Human Genetics, Inc,Center for Human Genetics, Inc 11 7 5 0 0 0 23
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 1 5 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 2 3 2 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 5 0 0 0 8
GeneReviews 5 0 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 4
Baylor Genetics 2 1 0 0 0 0 3
Institute of Human Genetics,Cologne University 2 0 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 1 0 0 0 3
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 1 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 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
Warsaw Genomics 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 1 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 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
Clinical Genomics Program,Stanford Medicine 0 1 0 0 0 0 1

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