ClinVar Miner

Variants in gene COL6A2

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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
199 149 1107 966 266 9 2167

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1A 139 64 596 790 116 3 1689
not provided 68 53 575 173 122 0 914
Collagen 6-related myopathy 2 8 60 50 94 1 209
not specified 0 0 27 117 66 0 186
Inborn genetic diseases 3 0 128 7 0 0 138
Myosclerosis 1 2 44 71 18 0 136
COL6A2-related disorder 3 2 32 80 7 0 124
Ullrich congenital muscular dystrophy 1A 9 16 18 0 12 0 53
Ullrich congenital muscular dystrophy 1B 15 1 5 0 0 0 21
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis 1 0 7 6 0 0 14
Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 1 4 6 0 0 0 11
Bethlem myopathy 1B 6 3 1 0 0 0 10
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 1 1 1 0 0 4 7
BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE 6 0 0 0 0 0 6
Tip-toe gait 0 5 1 0 0 0 6
Abnormality of the musculature 3 1 0 0 0 0 4
Myopathy 0 3 1 0 0 0 4
Bethlem myopathy 0 0 3 0 0 0 3
See cases 0 0 3 0 0 0 3
Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 0 2 0 0 0 0 2
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy 0 0 0 0 0 1 1
COL6A2-related core myopathy 0 1 0 0 0 0 1
Congenital muscular dystrophy 0 0 1 0 0 0 1
Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Congenital hip dislocation 1 0 0 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Hyperextensible hand joints; Fatigue 0 1 0 0 0 0 1
Proximal muscle weakness 0 1 0 0 0 0 1
Qualitative or quantitative defects of collagen 6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 133 41 578 793 109 0 1654
Eurofins Ntd Llc (ga) 40 15 356 26 61 0 498
GeneDx 18 14 138 145 126 0 441
Revvity Omics, Revvity 12 14 222 3 0 0 251
Illumina Laboratory Services, Illumina 1 4 62 101 94 0 194
PreventionGenetics, part of Exact Sciences 1 2 32 116 41 0 192
Ambry Genetics 3 0 128 7 0 0 138
CeGaT Center for Human Genetics Tuebingen 9 8 49 68 4 0 138
Breakthrough Genomics, Breakthrough Genomics 0 0 8 47 65 0 120
Genetic Services Laboratory, University of Chicago 0 3 3 12 8 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 18 5 0 0 26
Clinical Genetics, Academic Medical Center 0 0 3 2 19 0 24
OMIM 23 0 0 0 0 0 23
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 3 2 17 0 23
Athena Diagnostics 1 1 2 2 15 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 1 18 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 17 1 0 0 19
Kariminejad - Najmabadi Pathology & Genetics Center 3 7 6 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 1 6 9 0 0 0 16
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 14 1 0 15
Fulgent Genetics, Fulgent Genetics 0 0 8 6 0 0 14
Genome-Nilou Lab 0 0 0 0 12 0 12
3billion 7 4 1 0 0 0 12
Mendelics 4 1 1 1 4 0 11
Baylor Genetics 2 0 8 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 4 0 1 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 7 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 6 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 5 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 3 1 0 0 7
MGZ Medical Genetics Center 0 1 5 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 4 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 1 0 6
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 5 1 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 2 1 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 3 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 2 1 0 1 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 1 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 1 1 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 1 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 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
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 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
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 1 0 0 0 0 1

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