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
80 53 469 208 83 3 732

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 49 29 377 7 12 0 466
Bethlem myopathy 1 36 20 117 72 38 1 280
not specified 0 0 13 132 65 0 173
Collagen VI-related myopathy 1 3 37 72 12 1 125
Myosclerosis 0 0 35 71 12 0 118
Ullrich congenital muscular dystrophy 1 26 6 2 0 0 0 34
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 4 0 0 0 0 0 4
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis, autosomal recessive 0 0 4 0 0 0 4
Myosclerosis, autosomal recessive 2 2 0 0 0 0 4
Muscular Diseases 0 3 0 0 0 0 3
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 1 0 0 1 2
Inborn genetic diseases 2 0 0 0 0 0 2
Ullrich congenital muscular dystrophy 1, autosomal dominant 2 0 0 0 0 0 2
COL6A2-related disorder 0 0 1 0 0 0 1
Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Dysplasia of acetabulum 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 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

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 41 15 355 26 61 0 497
Invitae 15 10 115 72 38 0 250
GeneDx 12 10 33 89 21 0 165
Illumina Clinical Services Laboratory,Illumina 1 3 37 73 12 0 125
PreventionGenetics 0 0 0 37 34 0 71
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 3 10 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 11 1 0 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 4 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 3 1 0 0 5
Center for Genetic Medicine Research,Children's National Medical Center 0 1 3 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 1 0 3
Fulgent Genetics 0 0 3 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Ambry Genetics 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Division of Genomic Diagnostics,The 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
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
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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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