ClinVar Miner

Variants in gene COL11A2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
132 112 1326 1758 244 48 3180

Condition and significance breakdown #

Total conditions: 50
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 111 63 1129 1708 232 2 2971
not specified 0 0 129 121 56 0 289
Inborn genetic diseases 1 1 164 6 0 0 172
Otospondylomegaepiphyseal dysplasia, autosomal recessive 13 4 88 26 40 0 169
Fibrochondrogenesis 2 4 1 94 24 31 0 153
COL11A2-related disorder 4 8 49 68 3 2 134
Otospondylomegaepiphyseal dysplasia, autosomal dominant 6 7 56 3 15 0 87
Connective tissue disorder 0 0 11 40 8 0 59
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 4 18 22 4 1 2 51
Autosomal dominant nonsyndromic hearing loss 13 2 6 14 0 15 0 37
Autosomal recessive nonsyndromic hearing loss 53 9 7 3 0 15 0 33
Hearing impairment 0 0 11 1 0 0 12
Hepatocellular carcinoma 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Monogenic hearing loss 1 1 3 0 0 0 5
Gastric cancer 0 0 0 0 0 4 4
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Nonsyndromic genetic hearing loss 0 0 2 1 0 0 3
Rare genetic deafness 0 3 0 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
See cases 1 1 1 0 0 0 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13 0 0 2 0 0 0 2
Heart, malformation of; Thickened nuchal skin fold; Cystic hygroma; Short long bone 0 1 1 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Retinal dystrophy 0 1 1 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 33 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 53; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Fibrochondrogenesis 2 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Deafness 1 0 0 0 0 0 1
Down syndrome 0 0 1 0 0 0 1
Ear malformation 1 0 0 0 0 0 1
Infantile hypophosphatasia 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Larsen-like syndrome, B3GAT3 type 0 0 1 0 0 0 1
Nonsyndromic Deafness 1 0 0 0 0 0 1
Oculodentodigital dysplasia, autosomal recessive 0 1 0 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 0 0 0 0 0 1 1
Sensorineural hearing loss disorder 0 1 0 0 0 0 1
Short chin; Abnormal eyebrow morphology; Conductive hearing impairment; Single transverse palmar crease; Short lingual frenulum; Macrocephaly; Long philtrum; Reduced bone mineral density; Disproportionate short-limb short stature 0 0 1 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 93
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 105 33 795 1612 158 0 2703
GeneDx 10 15 401 166 109 0 701
Ambry Genetics 1 1 164 6 0 0 172
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 59 47 47 0 156
PreventionGenetics, part of Exact Sciences 3 6 47 78 22 0 156
Illumina Laboratory Services, Illumina 0 0 91 28 34 0 141
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 70 39 2 0 116
CeGaT Center for Human Genetics Tuebingen 3 5 36 49 4 0 97
Eurofins Ntd Llc (ga) 3 1 48 13 16 0 81
Fulgent Genetics, Fulgent Genetics 4 18 19 4 1 0 46
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 14 14 16 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 41 41
Breakthrough Genomics, Breakthrough Genomics 0 1 1 37 0 0 39
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 5 28 0 0 33
Revvity Omics, Revvity 2 8 20 0 0 0 30
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 6 14 7 0 28
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 6 14 8 0 28
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 5 5 15 0 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 18 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 3 13 0 19
Genome-Nilou Lab 0 0 0 0 15 0 15
OMIM 15 0 0 0 0 0 15
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 10 1 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 10 0 11
Athena Diagnostics 0 1 2 2 5 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 4 1 0 0 9
Institute of Rare Diseases, West China Hospital, Sichuan University 3 4 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 5 0 0 7
3billion 2 3 1 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 1 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
MVZ Martinsried, Medicover Genetics 2 2 2 0 0 0 6
Blueprint Genetics 0 2 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 3 0 0 5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 1 3 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 0 0 5
Mendelics 2 0 1 1 1 0 5
Baylor Genetics 0 0 4 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 2 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 0 1 2 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 1 0 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Center for Reproductive Medicine, Peking University Third Hospital 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
King Laboratory, University of Washington 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Genomics, G42 Labs 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Joe DiMaggio Children's Hospital, Memorial Healthcare System 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.