ClinVar Miner

Variants in gene COL6A3

Minimum submission review status: Collection method:
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Gene type:
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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
55 35 778 320 142 1082

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 35 22 621 5 17 697
Bethlem myopathy 1 19 12 201 97 83 410
not specified 0 0 17 193 123 262
Collagen VI-related myopathy 0 0 39 153 31 223
Ullrich congenital muscular dystrophy 1 10 3 3 0 0 16
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
Dystonia 27 6 0 2 0 0 8
Inborn genetic diseases 1 1 1 0 0 3
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
Muscular Diseases 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 10 571 30 115 753
Invitae 12 6 196 97 83 394
GeneDx 11 13 60 121 74 279
Illumina Clinical Services Laboratory,Illumina 0 0 39 153 31 223
PreventionGenetics 0 0 1 55 61 117
Genetic Services Laboratory, University of Chicago 1 0 7 29 26 63
Athena Diagnostics Inc 0 1 5 0 29 35
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 19 1 0 21
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 5 4 3 13
OMIM 11 0 0 0 0 11
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 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
Mendelics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,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
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

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