ClinVar Miner

Variants in gene COL6A2

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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
102 68 621 330 186 4 1037

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 53 31 382 77 79 0 593
Bethlem myopathy 1 45 25 300 131 48 1 546
Collagen VI-related myopathy 1 4 49 48 94 1 196
not specified 0 0 12 131 65 0 172
Myosclerosis 0 0 35 68 12 0 115
Ullrich congenital muscular dystrophy 1 12 4 2 0 0 0 18
Myosclerosis, autosomal recessive 1 2 4 3 0 0 10
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 4 0 0 0 0 0 4
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 2 0 0 2 4
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis, autosomal recessive 0 0 4 0 0 0 4
Inborn genetic diseases 2 0 2 0 0 0 4
Bethlem myopathy 0 0 3 0 0 0 3
Myopathy 0 3 0 0 0 0 3
Ullrich congenital muscular dystrophy 1, autosomal dominant 2 0 0 0 0 0 2
COL6A2-related disorder 0 0 1 0 0 0 1
Congenital muscular dystrophy 0 0 1 0 0 0 1
Cryptorchidism; Myopathy; Neonatal hypotonia 0 0 1 0 0 0 1
Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Developmental dysplasia of the hip 1 0 0 0 0 0 1
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormality of the cerebral white matter; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Congenital combined immunodeficiency 0 0 1 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Hyperextensible hand joints; Fatigue 0 1 0 0 0 0 1
Qualitative or quantitative defects of collagen 6 1 0 0 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 40 19 297 182 45 0 583
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 40 15 356 26 61 0 498
GeneDx 12 11 33 105 85 0 246
Illumina Clinical Services Laboratory,Illumina 1 4 65 101 94 0 196
PreventionGenetics,PreventionGenetics 0 0 0 37 34 0 71
CeGaT Praxis fuer Humangenetik Tuebingen 7 4 19 7 0 0 37
Genetic Services Laboratory,University of Chicago 0 3 3 10 8 0 24
OMIM 21 0 0 0 0 0 21
Athena Diagnostics Inc 1 1 1 1 13 0 17
Mendelics 3 1 1 1 4 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 1 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 4 0 0 6
Ambry Genetics 2 0 2 0 0 0 4
Center for Genetic Medicine Research,Children's National Medical Center 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 1 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 1 0 1

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