ClinVar Miner

Variants studied for TTN-related myopathy

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
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
343 2345 8336 12231 1812 41 23039

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 259 2016 6454 10499 1457 31 18942
RYR1 42 57 646 70 95 5 898
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 37 70 15 0 134
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 4 7 44 13 1 0 66
ASIC4, SPEG 5 5 25 1 7 1 41
SPEG 3 1 30 1 2 1 38
LOC129935184, TTN 2 0 20 10 4 1 30
LOC126862902, RYR1 2 1 12 4 7 0 25
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
LOC129391106, RYR1 0 0 6 4 1 0 10
LOC130064357, RYR1 0 0 5 0 1 0 6
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 0 4
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
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
LOC130064350, RYR1 0 0 1 0 0 0 1
NF1 0 0 0 0 1 0 1
PMS2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 113
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 173 2075 5619 11646 975 0 20488
Illumina Laboratory Services, Illumina 1 14 1813 571 1275 0 2328
Fulgent Genetics, Fulgent Genetics 32 85 1470 180 42 0 1809
Genome-Nilou Lab 0 0 0 0 688 0 688
Baylor Genetics 15 21 157 0 0 0 191
New York Genome Center 2 8 82 0 0 0 92
Revvity Omics, Revvity 1 3 66 1 0 0 71
OMIM 44 0 0 0 0 0 44
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 18 13 11 0 1 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 19 6 1 0 32
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 8 16 0 0 0 31
Institute of Human Genetics, University of Leipzig Medical Center 4 9 14 0 0 0 27
deCODE genetics, Amgen 2 24 0 0 0 0 26
KTest Genetics, KTest 18 6 0 0 0 0 24
GenomeConnect, ClinGen 0 0 0 0 0 22 22
3billion 11 5 4 0 0 0 20
GeneReviews 10 0 1 0 0 7 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 13 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 11 0 0 0 0 16
Mendelics 7 0 2 2 5 0 16
Neuberg Centre For Genomic Medicine, NCGM 2 4 9 1 0 0 16
Molecular Genetics, Royal Melbourne Hospital 3 1 1 8 3 0 16
KardioGenetik, Herz- und Diabeteszentrum NRW 0 10 6 0 0 0 16
Phosphorus, Inc. 0 0 10 1 2 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 11 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 10 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
Pediatric Department, Peking University First Hospital 1 7 3 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 1 3 6 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 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
Centogene AG - the Rare Disease Company 1 3 5 0 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 4 0 0 0 0 9
Suma Genomics 3 1 5 0 0 0 9
Institute of Human Genetics, Cologne University 1 4 1 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 1 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 1 0 0 0 5
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
Clinical Genomics Program, Stanford Medicine 0 3 2 0 0 0 5
Genomics England Pilot Project, Genomics England 0 5 0 0 0 0 5
MVZ Medizinische Genetik Mainz 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
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 0 0 0 0 4
Breda Genetics srl 0 0 4 0 0 0 4
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 1 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 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
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
Arcensus 0 1 2 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 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
Institute of Human Genetics, Medical University Innsbruck 1 0 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
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
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
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 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
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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 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
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1

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