ClinVar Miner

Variants studied for laminopathy

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
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
380 133 4933 3184 971 33 9082

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 103 35 2180 1515 392 2 3991
SYNE2 2 4 1905 1144 407 4 3238
EMD 78 14 160 219 22 0 473
FHL1 64 11 157 137 16 1 382
LMNA 52 32 134 33 14 24 253
LBR 15 4 77 8 14 0 113
LEMD3 9 4 42 12 21 0 87
LOC126859837, SYNE1 3 1 42 35 6 0 83
TMEM43 2 1 44 7 8 0 62
ESR1, SYNE1 0 0 35 13 11 0 58
ZMPSTE24 8 2 31 6 7 0 54
LMNB1 1 0 25 3 23 0 51
LOC129997480, SYNE1 1 0 20 19 3 0 40
PPARG 12 10 9 4 9 0 40
LOC126859838, SYNE1 1 0 14 16 1 0 30
LMNA, LOC126805877 3 1 9 3 2 1 16
LOC126859836, SYNE1 0 0 6 6 4 0 16
PLIN1 4 2 4 0 4 0 14
LMNA, LOC129931597 2 2 3 2 1 1 9
LOC130055816, SYNE2 0 0 6 0 3 0 9
LIPE, LOC101930071 3 2 4 0 0 0 8
LOC114803475, PPARG 2 4 1 1 0 0 8
LEMD3, LOC130008224 0 0 5 0 2 0 7
ERCC4 0 2 2 0 0 0 4
LEMD3, LOC130008225 0 0 3 1 0 0 4
LOC129930253, ZMPSTE24 1 0 3 0 0 0 4
PLAAT3 3 0 0 0 0 0 3
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 2
CIDEC 1 0 0 0 1 0 2
EMD, FLNA 0 0 2 0 0 0 2
LIPE 0 1 2 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ADGRG4, BRS3, CD40LG, FHL1, HTATSF1, MAP7D3, VGLL1 1 0 0 0 0 0 1
ADRA2A 1 0 0 0 0 0 1
ALDH7A1, LMNB1, LMNB1-DT, LOC112997555, LOC129389358, LOC129389359, LOC129994503, LOC129994504, LOC129994505, PHAX, SPMIP10 1 0 0 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
LOC125146351, PLIN1 0 0 1 0 0 0 1
LOC130057886, PLIN1 1 0 0 0 0 0 1
TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 219 36 4052 2974 506 0 7787
Illumina Laboratory Services, Illumina 0 4 507 173 717 0 1385
Revvity Omics, Revvity 2 4 341 17 0 0 364
Fulgent Genetics, Fulgent Genetics 8 5 187 69 10 0 279
OMIM 98 0 1 0 0 0 99
Genome-Nilou Lab 0 0 5 0 67 0 72
Baylor Genetics 6 6 49 0 0 0 61
Neuberg Centre For Genomic Medicine, NCGM 4 4 20 0 0 0 28
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 17 0 21
GeneReviews 0 0 0 0 0 21 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 3 5 1 0 0 21
Genetic Services Laboratory, University of Chicago 12 8 0 0 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 0 14 0 1 0 20
Institute of Human Genetics, University of Leipzig Medical Center 4 9 6 1 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 8 0 13
New York Genome Center 1 0 11 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 7 1 1 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 5 5 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 4 1 0 0 0 9
MGZ Medical Genetics Center 0 3 6 0 0 0 9
Mendelics 4 3 0 0 2 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 6 0 0 0 9
Athena Diagnostics 4 2 0 0 1 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 2 0 1 0 6
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 1 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 2 2 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 4
3billion 1 1 2 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 1 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 2 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 2 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 0 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Department of Medical Genetics, National Institute of Health 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 0 1 0 1 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 1 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Suma Genomics 0 2 0 0 0 0 2
DASA 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 2
Centro De Biociências, Universidade Federal do Rio Grande do Norte 2 0 0 0 0 0 2
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1
Unidad de Genética, Hospital Universitario de Canarias 0 1 0 0 0 0 1

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