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
131 93 754 842 414 9 1771

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1 96 42 298 666 262 3 1347
not provided 55 38 433 166 96 0 742
Collagen 6-related myopathy 3 0 65 26 109 2 204
not specified 0 0 21 114 98 0 201
Inborn genetic diseases 2 1 61 3 0 0 67
COL6A1-related condition 1 5 3 27 5 0 41
Ullrich congenital muscular dystrophy 1 11 9 10 0 13 0 41
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 1 1 5 5 8 2 22
Abnormality of the musculature 3 0 0 0 0 0 3
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT 3 0 0 0 0 0 3
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Collagen 6-related myopathy 0 0 0 0 0 1 1
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
Proximal muscle weakness 0 1 0 0 0 0 1
Sensorimotor neuropathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 90 32 283 672 259 0 1336
Eurofins Ntd Llc (ga) 41 12 283 15 90 0 441
GeneDx 13 10 87 148 134 0 392
Illumina Laboratory Services, Illumina 2 0 64 26 109 0 201
Revvity Omics, Revvity 16 14 167 3 0 0 200
PreventionGenetics, part of Exact Sciences 1 5 3 76 50 0 135
CeGaT Center for Human Genetics Tuebingen 7 3 23 41 3 0 77
Ambry Genetics 2 1 61 3 0 0 67
Genetic Services Laboratory, University of Chicago 1 1 8 16 11 0 37
Clinical Genetics, Academic Medical Center 3 1 0 0 31 0 35
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 2 4 22 0 32
Athena Diagnostics Inc 1 0 6 3 10 0 20
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 18 1 0 19
OMIM 14 0 0 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 13 0 0 0 13
Genome-Nilou Lab 0 0 0 0 13 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 4 7 0 12
Fulgent Genetics, Fulgent Genetics 1 1 5 5 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 2 1 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 0 10
Baylor Genetics 2 0 7 0 0 0 9
3billion 2 3 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 2 0 0 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Mendelics 2 1 1 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 2 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
MGZ Medical Genetics Center 1 1 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham 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
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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 School of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 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
Pars Genome Lab 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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