ClinVar Miner

Variants in gene COL6A3

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Minimum submission review status: Collection method:
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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
105 95 1865 1488 421 1 9 3184

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Bethlem myopathy 1 77 34 976 1246 246 0 2 2560
not provided 39 38 936 251 120 0 0 1299
Collagen 6-related myopathy 0 3 86 55 181 0 0 325
not specified 0 0 30 154 121 0 0 252
Inborn genetic diseases 1 2 133 5 0 0 0 141
COL6A3-related condition 2 4 32 64 22 0 0 124
Ullrich congenital muscular dystrophy 1 6 10 19 1 10 0 0 45
Dystonia 27 6 0 18 0 10 0 0 34
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 0 2 12 9 2 0 0 25
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 0 0 13 0 3 16
Tip-toe gait 1 6 3 1 0 1 0 12
See cases 0 0 5 1 0 0 0 6
Bethlem myopathy 1C 3 0 0 0 0 0 0 3
Ullrich congenital muscular dystrophy 1C 3 0 0 0 0 0 0 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
Abnormality of the vertebral column; Dental malocclusion; Numerous nevi; Inability to walk; Muscular atrophy; Sensory ataxia; Abnormality of the dorsal column of the spinal cord 0 0 1 0 0 0 0 1
Bethlem myopathy 1; Collagen 6-related myopathy; Dystonia 27 0 0 0 0 0 0 1 1
Bethlem myopathy 1; Dystonia 27 0 0 0 0 0 0 1 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Collagen 6-related myopathy 0 0 0 0 0 0 1 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Collagen 6-related myopathy; Dystonia 27 0 0 0 0 0 0 1 1
COL6A3-related disorders 0 1 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 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: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 73 21 955 1264 244 0 0 2557
Eurofins Ntd Llc (ga) 25 9 553 29 112 0 0 728
GeneDx 14 16 209 202 166 0 0 607
Revvity Omics, Revvity 7 12 357 8 0 0 0 384
Illumina Laboratory Services, Illumina 0 2 84 55 181 0 0 322
PreventionGenetics, part of Exact Sciences 2 4 33 106 81 0 0 226
CeGaT Center for Human Genetics Tuebingen 7 8 66 85 11 0 0 177
Ambry Genetics 1 2 133 5 0 0 0 141
Genetic Services Laboratory, University of Chicago 1 0 9 29 24 0 0 63
Athena Diagnostics Inc 0 1 7 3 40 0 0 51
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 0 32 0 0 35
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 5 28 1 0 0 35
Fulgent Genetics, Fulgent Genetics 0 0 12 9 2 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 13 3 0 0 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 1 17 0 0 0 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 7 0 0 16
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 14 0 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 7 6 0 0 0 13
Baylor Genetics 3 2 7 0 0 0 0 12
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
OMIM 11 0 0 0 0 0 0 11
MGZ Medical Genetics Center 1 4 5 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 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
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 5 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 4 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 5 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 0 2
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
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 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
3billion 1 0 1 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 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
Belal Azab Laboratory, The University of Jordan 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

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