ClinVar Miner

Variants in gene COL6A2

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
118 81 683 370 186 4 1141

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bethlem myopathy 1 62 36 361 191 48 1 694
not provided 55 32 384 77 79 0 598
Collagen VI-related myopathy 1 4 49 48 94 1 196
not specified 0 0 12 131 65 0 172
Myosclerosis, autosomal recessive 1 2 43 71 12 0 129
Ullrich congenital muscular dystrophy 1 13 5 7 0 0 0 25
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
none provided 0 0 2 0 0 0 2
COL6A2-related disorder 0 0 1 0 0 0 1
Congenital muscular dystrophy 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; Combined T and B cell 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: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 29 358 226 45 0 715
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 40 15 356 26 61 0 498
GeneDx 12 11 33 105 85 0 245
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 8 5 20 7 0 0 40
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 2 1 14 0 19
Baylor Genetics 2 0 8 0 0 0 10
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Mayo Clinic 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Molecular Biology Laboratory,Virgen Macarena University Hospital 0 1 0 0 0 0 1

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