ClinVar Miner

Variants studied for TTN-related myopathy

Included ClinVar conditions (36):
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
476 4109 7977 14043 1820 41 26306

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
TTN 364 3570 6081 12077 1464 31 21737
RYR1 55 87 661 71 95 5 951
BIN1 8 6 339 279 39 2 633
LOC101927055, TTN 3 30 63 178 22 0 276
LOC126806422, TTN 1 48 49 134 15 0 226
LOC126806423, TTN 5 47 50 122 13 0 220
LOC126806425, TTN 2 46 50 116 21 0 208
LOC126806424, TTN 4 41 49 107 14 0 196
LOC126806430, TTN 0 12 47 128 20 0 187
LOC126806431, TTN 0 15 41 121 11 0 176
LOC126806421, TTN 1 33 45 93 12 0 173
LOC126806426, TTN 1 33 36 94 8 0 163
LOC129935183, TTN 3 14 105 38 7 0 159
LOC126806420, TTN 1 34 38 78 15 0 150
LOC126806427, TTN 3 29 24 94 13 0 148
LOC126806433, TTN 2 25 33 91 4 0 148
LOC126806428, TTN 1 11 30 102 10 0 138
LOC126806429, TTN 1 3 27 69 10 0 99
LOC129935182, TTN 4 9 49 14 1 0 74
ASIC4, SPEG 6 5 28 1 7 1 45
SPEG 4 1 30 1 2 1 39
LOC129935184, TTN 2 0 21 12 4 1 33
LOC126862902, RYR1 3 3 12 4 7 0 28
LOC129935185, TTN 0 1 15 5 1 0 21
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
CYLD, NOD2 0 0 1 0 0 0 1
CYP1B1 0 0 1 0 0 0 1
DSP 0 1 0 0 0 0 1
FLNA 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: 130
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 272 3502 5076 13457 984 0 23288
Illumina Laboratory Services, Illumina 1 14 1812 571 1274 0 2326
Fulgent Genetics, Fulgent Genetics 45 113 1587 180 42 0 1967
Genome-Nilou Lab 0 0 0 0 688 0 688
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 13 268 19 0 0 0 300
Baylor Genetics 15 21 157 0 0 0 191
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 50 36 2 0 0 103
New York Genome Center 2 9 90 0 0 0 101
Juno Genomics, Hangzhou Juno Genomics, Inc 7 67 9 0 0 0 83
Revvity Omics, Revvity 1 3 66 1 0 0 71
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 10 28 0 0 0 46
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 20 17 8 0 1 0 46
OMIM 44 0 0 0 0 0 44
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 19 6 1 0 32
Institute of Human Genetics, University of Leipzig Medical Center 7 8 14 0 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 3 5 19 1 0 0 28
deCODE genetics, Amgen 2 24 0 0 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 16 0 0 0 0 25
Clinical Genomics Laboratory, Washington University in St. Louis 1 8 16 0 0 0 25
KTest Genetics, KTest 18 6 0 0 0 0 24
GenomeConnect, ClinGen 0 0 0 0 0 22 22
KardioGenetik, Herz- und Diabeteszentrum NRW 0 15 7 0 0 0 22
3billion, Medical Genetics 11 5 4 1 0 0 21
GeneReviews 10 0 1 0 0 7 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 13 0 0 0 18
Mendelics 7 0 2 2 5 0 16
Molecular Genetics, Royal Melbourne Hospital 3 1 1 8 3 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
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
Solve-RD Consortium 2 7 0 0 0 0 9
MVZ Medizinische Genetik Mainz 0 7 2 0 0 0 9
Institute of Human Genetics, Cologne University 1 5 1 1 0 0 8
Institute of Immunology and Genetics Kaiserslautern 4 2 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 1 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 2 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 4 1 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
Clinical Genomics Laboratory, Stanford Medicine 0 4 2 0 0 0 6
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 4 2 0 0 0 6
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 4 1 0 0 5
Undiagnosed Diseases Network, NIH 3 1 0 1 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
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
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
Institute of Human Genetics, Heidelberg University 1 3 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 0 4 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
Institute of Human Genetics, University of Wuerzburg 0 3 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
Arcensus 0 1 2 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 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
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 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
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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 2 0 0 0 0 2
Laboratorio Biología Molecular, Sanatorio Americano 0 2 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
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
CGC Genetics, Unilabs 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 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
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
Clinical Genetics Laboratory, Skane University Hospital Lund 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
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
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 0 1
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1

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