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
63 38 387 202 114 2 671

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 42 20 302 5 5 0 366
Bethlem myopathy 1 30 16 89 55 45 0 229
not specified 0 0 15 129 95 0 197
Collagen VI-related myopathy 0 0 39 79 23 1 141
Ullrich congenital muscular dystrophy 1 19 11 2 0 0 0 31
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 5 0 8 0 13
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 14 9 87 55 45 0 210
GeneDx 9 6 31 75 47 0 168
Illumina Clinical Services Laboratory,Illumina 0 0 38 79 23 0 140
PreventionGenetics 0 0 0 51 45 0 96
Genetic Services Laboratory, University of Chicago 1 0 8 15 11 0 35
OMIM 14 0 0 0 0 0 14
Athena Diagnostics Inc 1 0 5 0 8 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 2 3 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 2 1 0 5
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
Mendelics 0 0 1 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,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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