ClinVar Miner

Variants in gene COL11A2

Minimum submission review status: Collection method:
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Gene type:
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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
24 17 160 196 90 5 418

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 64 116 56 0 210
not provided 5 10 85 38 42 2 176
Otospondylomegaepiphyseal dysplasia, autosomal dominant 5 0 26 60 15 0 106
Otospondylomegaepiphyseal dysplasia, autosomal recessive 6 0 23 60 16 0 104
Fibrochondrogenesis 1 0 0 23 60 15 0 98
Nonsyndromic Hearing Loss, Dominant 0 0 23 60 15 0 98
Stickler Syndrome, Dominant 0 0 23 60 15 0 98
Connective tissue disorder 0 0 5 28 0 0 33
Deafness, autosomal recessive 53 3 3 0 0 0 0 6
Deafness, autosomal dominant 13 2 1 2 0 0 0 5
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 0 0 3 0 0 2 5
Fibrochondrogenesis 2 3 0 0 0 0 0 3
Inborn genetic diseases 0 1 1 0 0 0 2
COL11A2- Related Disorder 0 0 0 0 0 1 1
COL11A2-Related Disorders 0 0 1 0 0 0 1
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 0 0 1 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 0 1 0 0 0 1
Nonsyndromic Deafness 1 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1
Short chin; Abnormal eyebrow morphology; Conductive hearing impairment; Single transverse palmar crease; Short lingual frenulum; Macrocephalus; Long philtrum; Reduced bone mineral density; Disproportionate short-limb short stature 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 2 4 30 107 65 0 208
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 56 46 47 0 150
Illumina Clinical Services Laboratory,Illumina 0 0 24 60 15 0 99
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 48 13 16 0 81
Center for Human Genetics, Inc 0 0 5 28 0 0 33
PreventionGenetics,PreventionGenetics 0 0 0 11 19 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 14 5 0 0 23
OMIM 15 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 2 4 0 13
Athena Diagnostics Inc 0 0 2 2 4 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 3 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Mendelics 2 0 0 1 1 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Ambry Genetics 0 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 1 0 0 0 0 0 1

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