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
93 47 557 298 214 2 990

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1 57 21 267 144 47 0 532
not provided 48 23 307 73 63 0 490
Collagen VI-related myopathy 0 0 64 26 109 1 199
not specified 0 0 17 129 95 0 199
Ullrich congenital muscular dystrophy 1 7 4 9 0 0 0 19
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 5 0 8 0 13
Inborn genetic diseases 1 1 4 0 0 0 6
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
Myopathy 1 0 0 0 0 0 1
Sensorimotor neuropathy 1 0 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 48 19 262 179 48 0 556
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 41 12 283 15 90 0 441
GeneDx 9 7 31 82 102 0 231
Illumina Clinical Services Laboratory,Illumina 0 0 63 26 109 0 198
PreventionGenetics, PreventionGenetics 0 0 0 51 45 0 96
Genetic Services Laboratory, University of Chicago 1 0 8 15 11 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 6 3 13 9 0 0 31
Athena Diagnostics Inc 1 0 6 3 10 0 20
OMIM 14 0 0 0 0 0 14
Baylor Genetics 2 0 6 0 0 0 8
Ambry Genetics 1 1 4 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 2 1 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 3 0 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Mendelics 2 1 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
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
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1

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