ClinVar Miner

Variants in gene COL6A3

See also:
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 pathogenic, low penetrance not provided total
117 104 2105 1614 425 1 9 3517

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Bethlem myopathy 1A 88 36 1110 1364 250 0 2 2824
not provided 40 42 991 283 152 0 0 1399
Collagen 6-related myopathy 1 2 89 56 181 0 0 329
Inborn genetic diseases 1 2 287 13 0 0 0 303
not specified 0 0 51 160 131 0 0 289
COL6A3-related disorder 2 6 45 73 22 0 0 147
Dystonia 27 7 4 39 0 10 0 0 60
Ullrich congenital muscular dystrophy 1A 8 13 27 1 10 0 0 57
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 0 2 12 9 2 0 0 25
Bethlem myopathy 1C 7 1 6 0 0 0 0 14
Tip-toe gait 1 6 3 1 0 1 0 12
Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 0 0 9 1 0 0 0 10
See cases 0 0 5 1 0 0 0 6
Ullrich congenital muscular dystrophy 1C 3 1 1 0 0 0 0 5
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 0 0 0 0 0 0 3 3
Abnormality of the musculature 0 2 0 0 0 0 0 2
COL6A3-related phenotype 0 0 2 0 0 0 0 2
Myopathy 1 0 1 0 0 0 0 2
Bethlem myopathy 0 0 0 1 0 0 0 1
Bethlem myopathy 1A; Collagen 6-related myopathy; Dystonia 27 0 0 0 0 0 0 1 1
Bethlem myopathy 1A; Dystonia 27 0 0 0 0 0 0 1 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy 0 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 0 1 1
Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 1 0 0 0 0 0 0 1
Congenital contracture 0 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Multiple joint contractures 0 0 1 0 0 0 0 1
Muscle tissue disorder 0 0 0 1 0 0 0 1
Muscle weakness 0 0 1 0 0 0 0 1
Muscular dystrophy 0 0 0 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 85 22 1085 1381 247 0 0 2820
Eurofins Ntd Llc (ga) 25 9 553 29 112 0 0 728
GeneDx 15 19 266 202 166 0 0 668
Revvity Omics, Revvity 7 12 357 8 0 0 0 384
Illumina Laboratory Services, Illumina 0 2 83 55 181 0 0 321
Ambry Genetics 1 2 287 13 0 0 0 303
PreventionGenetics, part of Exact Sciences 2 4 46 115 81 0 0 248
CeGaT Center for Human Genetics Tuebingen 7 9 71 100 12 0 0 199
Breakthrough Genomics, Breakthrough Genomics 0 0 9 66 99 0 0 174
Genetic Services Laboratory, University of Chicago 1 0 9 29 24 0 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 35 12 1 0 0 56
Athena Diagnostics 0 1 7 3 43 0 0 54
Clinical Genetics, Academic Medical Center 2 0 1 3 41 0 0 47
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 1 32 0 0 36
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 5 28 1 0 0 35
Mayo Clinic Laboratories, Mayo Clinic 0 1 32 0 0 0 0 33
Fulgent Genetics, Fulgent Genetics 0 0 19 10 2 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 27 0 0 0 0 28
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 27 0 0 27
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 7 0 0 16
OMIM 14 0 0 0 0 0 0 14
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 14 0 0 0 0 14
Baylor Genetics 3 2 8 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 8 2 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 7 6 0 0 0 13
Mendelics 2 2 3 0 5 0 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 4 4 3 0 0 12
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 1 6 3 1 0 1 0 12
MGZ Medical Genetics Center 1 4 5 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 1 9 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 9 1 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 4 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 2 1 0 0 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 4 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 4 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 4 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 5 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 0 6 0 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 4 0 0 0 0 5
3billion 2 0 3 0 0 0 0 5
Center for Genetic Medicine Research, Children's National Medical Center 0 1 3 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 0 1 3 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 2 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 0 0 0 1 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 0 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Department of Biochemistry, All India Institute of Medical Sciences, Kalyani 0 0 1 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.