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
6 12 167 70 51 296

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2 2 132 53 43 232
not provided 1 7 35 2 0 45
not specified 0 0 0 17 25 42
Bethlem myopathy 2 3 0 1 0 0 4
Ullrich congenital muscular dystrophy 2 2 2 0 0 0 4
Ullrich congenital muscular dystrophy 0 0 2 0 0 2
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: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 2 132 53 43 232
PreventionGenetics 0 0 0 16 25 41
GeneDx 1 5 30 1 0 37
Fulgent Genetics 0 0 10 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 1 0 6
OMIM 4 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 2 0 0 4
Institute of Human Genetics,Cologne University 1 0 1 0 0 2
Ambry Genetics 0 1 0 0 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1

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