ClinVar Miner

Variants in gene COL6A2

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Minimum submission review status: Collection method:
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Gene type:

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
209 162 1194 1034 279 70 2378

Condition and significance breakdown #

Total conditions: 54
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1A 149 66 652 845 124 3 1819
not provided 72 62 620 209 131 0 996
not specified 0 0 53 136 76 0 236
Collagen 6-related myopathy 2 8 57 44 93 1 199
Inborn genetic diseases 3 0 181 8 0 0 192
COL6A2-related disorder 3 2 33 80 7 0 125
Ullrich congenital muscular dystrophy 1A 12 16 18 0 12 0 55
Myosclerosis 1 2 9 3 12 0 27
Ullrich congenital muscular dystrophy 1B 16 3 6 0 0 0 25
Ovarian serous cystadenocarcinoma 0 0 0 0 0 19 19
Bethlem myopathy 1B 8 4 5 0 0 0 17
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis 1 0 7 7 0 0 15
Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 2 4 6 0 0 0 12
Nonpapillary renal cell carcinoma 0 0 0 0 0 12 12
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Sarcoma 0 0 0 0 0 8 8
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 1 1 1 0 0 4 7
Cervical cancer 0 0 0 0 0 7 7
Lung cancer 0 0 0 0 0 7 7
BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE 6 0 0 0 0 0 6
Tip-toe gait 0 5 1 0 0 0 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 5 5
Abnormality of the musculature 3 1 0 0 0 0 4
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Myopathy 0 3 1 0 0 0 4
Bethlem myopathy 0 0 3 0 0 0 3
Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 0 3 0 0 0 0 3
Familial cancer of breast 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
See cases 0 0 3 0 0 0 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Congenital myopathy 0 0 2 0 0 0 2
Limb-girdle muscular dystrophy 0 0 1 1 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
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
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Congenital muscular dystrophy 0 0 1 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 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
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 143 44 634 848 117 0 1786
Eurofins Ntd Llc (ga) 40 15 356 26 68 0 505
GeneDx 19 15 160 145 137 0 476
Revvity Omics, Revvity 11 20 259 10 0 0 300
PreventionGenetics, part of Exact Sciences 1 2 32 117 47 0 199
Ambry Genetics 3 0 181 8 0 0 192
Illumina Laboratory Services, Illumina 1 4 43 43 93 0 184
CeGaT Center for Human Genetics Tuebingen 10 9 55 91 5 0 170
Breakthrough Genomics, Breakthrough Genomics 0 0 8 55 67 0 130
Mayo Clinic Laboratories, Mayo Clinic 0 2 31 18 32 0 83
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 44 24 1 0 73
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 62 62
Genetic Services Laboratory, University of Chicago 0 3 3 14 12 0 32
Athena Diagnostics 2 1 3 2 21 0 29
Clinical Genetics, Academic Medical Center 0 0 3 2 23 0 28
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 3 2 21 0 27
OMIM 23 0 0 0 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 17 1 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 2 6 9 0 0 0 17
3billion 9 4 3 0 0 0 16
Kariminejad - Najmabadi Pathology & Genetics Center 3 7 6 0 0 0 16
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 15 1 0 16
Fulgent Genetics, Fulgent Genetics 0 0 8 7 0 0 15
Genome-Nilou Lab 0 0 0 0 12 0 12
Mendelics 4 1 1 1 4 0 11
Baylor Genetics 2 0 8 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 9 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 4 0 1 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 4 3 0 1 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 6 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 4 1 0 7
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 2 0 6
MGZ Medical Genetics Center 0 1 5 0 0 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
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 1 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 2 0 0 0 5
Center for Genetic Medicine Research, Children's National Medical Center 0 1 3 0 0 0 4
Dasa 3 1 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 2 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 3 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 2 1 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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 3
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 1 1 1 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Human Genetics, University of Wuerzburg 0 2 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 1 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 3
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 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
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 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
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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