ClinVar Miner

Variants in gene COL6A3

Minimum submission review status: Collection method:
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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
75 50 1166 546 289 1 1722

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1 43 21 645 300 97 0 1100
not provided 37 27 635 151 81 0 892
Collagen VI-related myopathy 0 0 85 56 186 0 327
not specified 0 0 16 193 123 0 261
Ullrich congenital muscular dystrophy 1 5 1 9 1 0 0 16
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 1 0 0 13 1 15
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 0 1 9 0 0 0 10
Dystonia 27 6 0 3 0 0 0 9
Inborn genetic diseases 1 1 1 0 0 0 3
COL6A3-related phenotype 0 0 2 0 0 0 2
Myopathy 1 0 1 0 0 0 2
Toe walking 0 0 2 0 0 0 2
Abnormality of the vertebral column; Dental malocclusion; Numerous nevi; Inability to walk; Skeletal muscle atrophy; Sensory ataxia; Abnormality of the dorsal column of the spinal cord 0 0 1 0 0 0 1
Autosomal recessive distal hereditary motor neuropathy 0 0 1 0 0 0 1
Congenital contracture 0 0 1 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Multiple joint contractures 0 0 1 0 0 0 1
Muscular dystrophy 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1
Ullrich congenital muscular dystrophy 1, autosomal dominant 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 10 637 364 99 0 1147
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 27 10 571 30 115 0 753
GeneDx 11 13 60 151 132 0 367
Illumina Clinical Services Laboratory,Illumina 0 0 85 56 186 0 327
PreventionGenetics, PreventionGenetics 0 0 1 55 61 0 117
Genetic Services Laboratory, University of Chicago 1 0 7 29 26 0 63
CeGaT Praxis fuer Humangenetik Tuebingen 5 5 36 14 0 0 60
Athena Diagnostics Inc 0 1 7 2 39 0 49
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 5 4 3 0 13
OMIM 11 0 0 0 0 0 11
Mendelics 0 4 2 0 5 0 11
Baylor Genetics 2 1 7 0 0 0 10
Fulgent Genetics,Fulgent Genetics 0 0 9 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 0 8
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 4
Ambry Genetics 1 1 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 1 1 1 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 0 2
GeneReviews 2 0 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 2 0 0 2
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 0 0 0 1 0 1

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