ClinVar Miner

Variants studied for Tuberous sclerosis 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
382 74 1618 790 593 20 3442

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 364 74 1612 790 593 2 3400
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 287 49 1598 779 586 0 3299
Athena Diagnostics Inc 44 6 0 0 26 0 76
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 55 8 3 0 0 0 66
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 5 0 10
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
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: University of Minnesota 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 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
Johns Hopkins Genomics,Johns Hopkins University 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

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