ClinVar Miner

Variants studied for TTN-related myopathy

Included ClinVar conditions (29):
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
289 2249 7627 12151 1708 36 22017

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 254 1982 6419 10497 1457 31 18872
BIN1 7 6 310 257 39 2 582
LOC101927055, TTN 1 4 80 154 22 0 242
LOC126806422, TTN 1 38 48 121 15 0 203
LOC126806423, TTN 5 33 47 107 13 0 188
LOC126806425, TTN 1 35 49 100 20 0 178
LOC126806424, TTN 3 30 47 91 14 0 168
LOC126806430, TTN 0 1 47 115 20 0 163
LOC126806421, TTN 1 28 43 87 12 0 160
LOC126806431, TTN 0 1 52 103 11 0 155
LOC126806426, TTN 0 23 35 81 8 0 139
LOC126806420, TTN 0 28 36 70 15 0 133
LOC129935183, TTN 2 13 84 31 7 0 130
LOC126806433, TTN 0 6 48 76 4 0 128
LOC126806427, TTN 2 3 46 77 13 0 126
LOC126806428, TTN 0 1 36 88 10 0 121
LOC126806429, TTN 0 0 31 56 10 0 86
LOC129935182, TTN 2 7 44 13 1 0 64
ASIC4, SPEG 4 4 25 1 7 1 39
SPEG 3 1 29 1 2 1 37
LOC129935184, TTN 2 0 20 10 4 1 30
LOC129935185, TTN 0 1 13 5 1 0 19
LOC126806432, TTN 0 0 12 2 1 0 15
BIN1, LOC122819150 0 0 13 1 0 0 14
LOC129935186, TTN 0 2 3 7 1 0 11
BIN1, LOC112806045 0 0 2 0 0 0 2
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 1
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 1
CYP1B1 0 0 1 0 0 0 1
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 1 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 1
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN 1 0 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 1
NF1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 172 2064 5602 11646 975 0 20459
Illumina Laboratory Services, Illumina 1 12 1534 529 1189 0 1919
Fulgent Genetics, Fulgent Genetics 15 56 1062 142 18 0 1293
Genome-Nilou Lab 0 0 0 0 657 0 657
Baylor Genetics 11 16 143 0 0 0 168
New York Genome Center 2 7 79 0 0 0 88
Revvity Omics, Revvity 1 3 66 1 0 0 71
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 17 13 11 0 1 0 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 19 6 1 0 32
OMIM 30 0 0 0 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 4 9 13 0 0 0 26
deCODE genetics, Amgen 2 24 0 0 0 0 26
KTest Genetics, KTest 18 6 0 0 0 0 24
GeneReviews 10 0 1 0 0 7 18
GenomeConnect, ClinGen 0 0 0 0 0 18 18
Mendelics 7 0 2 2 5 0 16
3billion 8 5 2 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 9 0 0 0 14
Phosphorus, Inc. 0 0 10 1 2 0 13
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 10 1 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 8 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 4 5 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 10 0 0 0 11
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 10
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 4 4 1 0 0 10
Genetic Services Laboratory, University of Chicago 4 1 4 0 0 0 9
MGZ Medical Genetics Center 2 3 4 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Institute of Human Genetics, Cologne University 1 4 1 1 0 0 7
Centogene AG - the Rare Disease Company 0 3 4 0 0 0 7
Suma Genomics 3 0 4 0 0 0 7
KardioGenetik, Herz- und Diabeteszentrum NRW 0 3 4 0 0 0 7
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 6 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 4 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 2 0 0 0 6
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 4 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 3 1 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 5 0 0 0 5
Genomics England Pilot Project, Genomics England 0 5 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 3 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 3 1 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Breda Genetics srl 0 0 4 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 1 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 2 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 1 1 0 1 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 1 2 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Arcensus 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 1 1 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Genatak 0 1 0 0 0 0 1
Belal Azab Laboratory, The University of Jordan 0 1 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 1

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