ClinVar Miner

Variants in gene COL18A1

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Minimum submission review status: Collection method:
Minimum conflict level:
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 total
10 9 65 32 31 138

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Knobloch syndrome 1 8 2 48 23 9 89
not specified 0 0 11 6 24 41
not provided 2 2 10 6 3 23
Retinal dystrophy 0 3 0 0 0 3
Cataract; Nystagmus; Retinal dystrophy; Severe Myopia 0 1 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 46 23 7 76
Athena Diagnostics Inc 0 1 9 2 8 20
PreventionGenetics 0 0 0 2 18 20
OMIM 6 0 0 0 0 6
GeneDx 1 0 3 2 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 5 0 5
NIHR Bioresource Rare Diseases,University of Cambridge 0 4 0 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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