ClinVar Miner

Variants in gene COL6A3

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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 total
63 45 963 463 288 1461

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 36 24 632 145 80 882
Bethlem myopathy 1 29 19 393 169 97 701
Collagen VI-related myopathy 0 0 85 56 186 327
not specified 0 0 16 193 123 261
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 1 0 0 13 14
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 0 1 9 0 0 10
Ullrich congenital muscular dystrophy 1 5 1 3 0 0 9
Dystonia 27 6 0 2 0 0 8
Inborn genetic diseases 1 1 1 0 0 3
COL6A3-related phenotype 0 0 2 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 1
Autosomal recessive distal hereditary motor neuropathy 0 0 1 0 0 1
Congenital contracture 0 0 1 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 1
Multiple joint contractures 0 0 1 0 0 1
Muscular dystrophy 0 0 0 0 1 1
Myopathy 1 0 0 0 0 1
See cases 0 0 1 0 0 1
Ullrich congenital muscular dystrophy 1, autosomal dominant 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 9 387 271 98 789
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 10 571 30 115 753
GeneDx 11 13 60 151 132 367
Illumina Clinical Services Laboratory,Illumina 0 0 85 56 186 327
PreventionGenetics,PreventionGenetics 0 0 1 55 61 117
Genetic Services Laboratory, University of Chicago 1 0 7 29 26 63
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 36 8 0 51
Athena Diagnostics Inc 0 1 6 2 33 42
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 5 4 3 13
OMIM 11 0 0 0 0 11
Mendelics 0 4 2 0 5 11
Fulgent Genetics,Fulgent Genetics 0 0 9 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 8
Center for Genetic Medicine Research,Children's National Medical Center 0 1 3 0 0 4
Ambry Genetics 1 1 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 1 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 2 0 2
Baylor Genetics 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 0 0 0 1 1

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