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 total
19 15 374 192 62 648

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 12 4 339 95 52 502
not provided 2 7 48 84 2 142
not specified 0 0 0 17 25 42
Ullrich congenital muscular dystrophy 2 4 2 1 1 0 8
Bethlem myopathy 2 3 0 2 0 0 5
Ullrich congenital muscular dystrophy 0 0 3 0 0 3
Abnormality of connective tissue 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2 0 0 1 0 0 1
EMG abnormality; EMG: myotonic runs 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 3 339 177 54 585
PreventionGenetics,PreventionGenetics 0 0 0 16 25 41
GeneDx 1 5 30 1 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 16 1 0 20
Fulgent Genetics,Fulgent Genetics 0 0 10 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 5
OMIM 4 0 0 0 0 4
Institute of Human Genetics,Cologne University 1 0 1 0 0 2
Baylor Genetics 0 1 0 0 0 1
Ambry Genetics 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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