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
294 2261 7634 12153 1708 36 22036

Gene and significance breakdown #

Total genes and gene combinations: 39
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 257 1992 6426 10499 1457 31 18888
BIN1 8 6 310 257 39 2 582
LOC101927055, TTN 1 4 80 154 22 0 242
LOC126806422, TTN 1 39 48 121 15 0 204
LOC126806423, TTN 5 33 47 107 13 0 188
LOC126806425, TTN 1 35 49 100 20 0 178
LOC126806424, TTN 3 31 47 91 14 0 169
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 5 4 25 1 7 1 40
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: 105
Download table as spreadsheet
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 13 1534 529 1189 0 1920
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 8 16 0 0 0 29
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
Molecular Genetics, Royal Melbourne Hospital 2 1 1 8 3 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 9 0 0 0 0 12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 10 1 0 0 0 12
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 Centre For Genomic Medicine, NCGM 1 4 4 1 0 0 10
KardioGenetik, Herz- und Diabeteszentrum NRW 0 5 5 0 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
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
Genomic Medicine Lab, University of California San Francisco 0 3 3 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 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
Institute of Human Genetics, Heidelberg University 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 Genomics Program, Stanford Medicine 0 2 1 0 0 0 3
Arcensus 0 1 2 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 3 0 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 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
James R Lupski Laboratory, Baylor College Of Medicine 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
Department of Human Genetics, Hannover Medical School 0 0 1 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
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.