ClinVar Miner

Variants in gene COL11A1

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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 risk factor not provided total
36 33 263 190 182 1 1 616

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 13 21 129 86 134 0 0 361
Fibrochondrogenesis 1 7 0 128 15 35 0 0 184
Stickler syndrome type 2 4 4 103 34 24 0 0 169
not specified 0 0 4 78 57 0 0 132
Connective tissue disease 0 1 8 22 0 0 0 31
Marshall syndrome 6 2 16 3 4 0 0 31
Stickler Syndrome, Dominant 0 0 10 1 4 0 0 15
Hearing impairment 2 2 6 1 0 0 0 11
Deafness, autosomal dominant 37 4 0 0 0 0 0 0 4
Inborn genetic diseases 1 1 1 0 0 0 0 3
COL11A1-Related Disorders 0 0 2 0 0 0 0 2
Marshall syndrome; Stickler syndrome type 2; Deafness, autosomal dominant 37 0 0 2 0 0 0 0 2
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 0 1 0 0 0 0 1 2
Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia (disease); Short nose; Hypoplasia of the maxilla; Cleft palate 0 1 0 0 0 0 0 1
Lumbar disc herniation, susceptibility to 0 0 0 0 0 1 0 1
Marshall syndrome; Stickler syndrome type 2 0 1 0 0 0 0 0 1
Marshall/Stickler syndrome 1 0 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type III 0 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 0 1
Sensorineural hearing loss 0 0 1 0 0 0 0 1
Stickler syndrome 1 0 0 0 0 0 0 1
sporadic abdominal aortic aneurysm 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 6 7 29 95 101 0 0 238
Illumina Clinical Services Laboratory,Illumina 0 0 125 35 35 0 0 175
Invitae 4 4 53 53 29 0 0 143
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 2 39 4 15 0 0 66
PreventionGenetics, PreventionGenetics 0 0 0 13 31 0 0 44
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 40 0 0 40
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 9 22 0 0 0 32
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 15 3 0 0 0 22
OMIM 14 0 0 0 0 1 0 15
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 2 2 6 1 0 0 0 11
Baylor Genetics 2 2 5 0 0 0 0 9
Athena Diagnostics Inc 0 0 1 0 8 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 5 0 0 0 0 7
Mendelics 2 0 1 0 2 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 2 0 0 0 4
Ambry Genetics 1 1 1 0 0 0 0 3
Blueprint Genetics 0 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 3
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 2 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
TilsonLab,Columbia University 1 0 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Paediatric Orthopaedics Research Lab,Christian Medical College 0 0 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1

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