ClinVar Miner

Variants in gene COL6A3

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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
133 116 2337 1691 425 75 3855

Condition and significance breakdown #

Total conditions: 64
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1A 100 37 1241 1437 250 2 3041
not provided 42 51 1099 305 153 0 1524
Inborn genetic diseases 2 2 422 19 0 0 445
not specified 0 0 75 178 137 0 330
Collagen 6-related myopathy 2 2 89 50 179 0 322
COL6A3-related disorder 2 7 45 73 22 0 148
Dystonia 27 7 4 39 0 10 0 60
Ullrich congenital muscular dystrophy 1A 10 12 27 1 10 0 58
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 0 2 12 9 2 0 25
Bethlem myopathy 1C 9 1 13 0 0 0 23
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 20 20
Ovarian serous cystadenocarcinoma 0 0 0 0 0 19 19
Tip-toe gait 2 6 4 1 0 0 13
Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 0 1 9 1 0 0 11
Ullrich congenital muscular dystrophy 1C 5 1 1 0 0 0 7
See cases 0 0 5 1 0 0 6
Cervical cancer 0 0 0 0 0 5 5
Limb-girdle muscular dystrophy 0 1 3 0 1 0 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 5 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Abnormality of the musculature 0 2 0 0 0 0 2
COL6A3-related phenotype 0 0 2 0 0 0 2
Colorectal cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Myopathy 1 0 1 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Bethlem myopathy 0 0 0 1 0 0 1
Bethlem myopathy 1A; Collagen 6-related myopathy; Dystonia 27 0 0 0 0 0 1 1
Bethlem myopathy 1A; Dystonia 27 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
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy; Dystonia 27 0 0 0 0 0 1 1
Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Congenital contracture 0 0 1 0 0 0 1
Congenital myopathy 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Intellectual disability 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Multiple joint contractures 0 0 1 0 0 0 1
Muscle tissue disorder 0 0 0 1 0 0 1
Muscle weakness 0 0 1 0 0 0 1
Muscular dystrophy 0 0 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Spinocerebellar ataxia type 13 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 97 23 1216 1453 247 0 3036
Eurofins Ntd Llc (ga) 25 9 553 29 112 0 728
GeneDx 16 19 308 202 166 0 711
Revvity Omics, Revvity 6 19 434 13 0 0 472
Ambry Genetics 2 2 422 19 0 0 445
Illumina Laboratory Services, Illumina 0 2 81 49 179 0 311
CeGaT Center for Human Genetics Tuebingen 8 9 106 123 14 0 260
PreventionGenetics, part of Exact Sciences 2 4 46 115 81 0 248
Breakthrough Genomics, Breakthrough Genomics 0 0 9 66 99 0 174
Mayo Clinic Laboratories, Mayo Clinic 0 1 45 16 73 0 135
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 59 30 1 0 98
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 66 66
Genetic Services Laboratory, University of Chicago 1 0 9 29 24 0 63
Athena Diagnostics 0 2 9 3 47 0 61
Clinical Genetics, Academic Medical Center 2 0 1 3 41 0 47
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 1 32 0 36
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 5 28 1 0 35
Fulgent Genetics, Fulgent Genetics 0 0 19 10 2 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 27 0 0 0 28
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 27 0 27
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 7 0 16
Mendelics 2 2 6 0 5 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 10 2 0 0 15
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 14 0 0 0 14
OMIM 14 0 0 0 0 0 14
Baylor Genetics 3 2 8 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 7 6 0 0 13
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 2 6 4 1 0 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 4 4 3 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 5 3 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 1 10 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 9 1 0 0 10
MGZ Medical Genetics Center 1 4 5 0 0 0 10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 5 0 1 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 0 8
3billion 3 1 3 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 2 1 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 4 0 0 0 7
Dubai Health Genomic Medicine Center, Dubai Health 0 0 3 4 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 5 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 4 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 0 6 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 4 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
Center for Genetic Medicine Research, Children's National Medical Center 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute of Human Genetics, University of Wuerzburg 0 1 3 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory Cellgenetics, GMDL Cellgenetics 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 2
Dasa 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 1 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Department of Biochemistry, All India Institute of Medical Sciences, Kalyani 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 0 0 0 1 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1

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