ClinVar Miner

Variants in gene COL12A1

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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
26 22 686 262 64 2 1045

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 19 7 642 198 53 1 919
not provided 2 10 53 85 2 0 151
not specified 0 0 2 17 26 0 45
Bethlem myopathy 2 3 0 12 0 0 0 15
Ullrich congenital muscular dystrophy 2 4 3 5 1 0 0 13
Ullrich congenital muscular dystrophy 0 0 3 0 0 0 3
Inborn genetic diseases 0 1 1 0 0 0 2
Abnormality of connective tissue 0 1 0 0 0 0 1
COL12A1- Related Disorder 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 2 0 0 1 0 0 0 1
EMG abnormality; EMG: myotonic runs 0 0 1 0 0 0 1
none provided 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 6 642 247 55 0 969
PreventionGenetics, PreventionGenetics 0 0 0 16 25 0 41
GeneDx 1 5 30 1 0 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 20 2 0 0 26
Fulgent Genetics,Fulgent Genetics 0 0 10 0 0 0 10
Baylor Genetics 0 1 7 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 1 0 3
Ambry Genetics 0 1 1 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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