ClinVar Miner

Variants in gene COL6A1

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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
70 41 415 273 158 2 794

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 45 22 306 135 98 0 538
not specified 0 0 15 129 95 0 197
Bethlem myopathy 1 28 14 131 8 11 0 190
Collagen VI-related myopathy 0 0 39 79 23 1 141
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 5 0 8 0 13
Ullrich congenital muscular dystrophy 1 4 4 2 0 0 0 10
Inborn genetic diseases 0 1 2 0 0 0 3
Ullrich congenital muscular dystrophy 1, autosomal dominant 3 0 0 0 0 0 3
COL6A1-related Disorder 0 0 0 0 0 1 1
Motor delay; Limb-girdle muscle weakness; EMG abnormality 0 1 0 0 0 0 1
Muscular Diseases 1 0 0 0 0 0 1
Sensorimotor neuropathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 41 12 283 15 90 0 441
Invitae 20 12 129 135 48 0 344
GeneDx 9 6 31 82 102 0 230
Illumina Clinical Services Laboratory,Illumina 0 0 38 79 23 0 140
PreventionGenetics,PreventionGenetics 0 0 0 51 45 0 96
Genetic Services Laboratory, University of Chicago 1 0 8 15 11 0 35
Athena Diagnostics Inc 1 0 5 2 10 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 10 4 0 0 17
OMIM 14 0 0 0 0 0 14
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 2 1 0 5
Mendelics 2 1 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Ambry Genetics 0 1 2 0 0 0 3
Center for Genetic Medicine Research,Children's National Medical Center 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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