ClinVar Miner

Variants in gene COL1A1

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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 association not provided total
1088 437 1020 1259 281 3 95 3575

Condition and significance breakdown #

Total conditions: 82
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Osteogenesis imperfecta type I 843 140 535 933 164 0 0 2584
not provided 267 112 347 212 105 0 1 976
Cardiovascular phenotype 9 6 184 351 30 0 0 580
not specified 4 5 76 186 113 0 0 357
Osteogenesis imperfecta 61 66 88 33 52 0 1 291
COL1A1-related disorder 42 26 41 74 5 0 0 187
Ehlers-Danlos syndrome, arthrochalasia type 4 4 62 16 71 0 0 155
Infantile cortical hyperostosis 4 8 102 16 14 0 1 144
Osteogenesis imperfecta, perinatal lethal 55 25 0 2 9 0 0 91
Osteogenesis imperfecta with normal sclerae, dominant form 50 22 8 0 9 0 0 88
Ehlers-Danlos syndrome 2 0 37 24 16 0 0 79
Osteogenesis imperfecta type III 34 18 2 1 9 0 0 63
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 20 8 11 8 5 0 0 51
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 45 45
Connective tissue disorder 0 0 7 13 0 0 0 20
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 9 3 2 1 0 0 0 15
See cases 4 4 4 2 0 0 0 14
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 5 6 0 0 0 0 0 11
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 6 1 4 0 0 0 0 11
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 11 11
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 8 8
autosomal dominant COL1A1-related osteogenesis imperfecta 5 3 0 0 0 0 0 8
Lung cancer 0 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 0 6 6
Clear cell carcinoma of kidney 0 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 0 4 4
Abnormality of the skeletal system 1 2 0 0 0 0 0 3
Bone mineral density variation quantitative trait locus 0 0 0 0 0 3 0 3
Cervical cancer 0 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 0 3 3
Autosomal dominant COL1A1-related disorders 0 2 0 0 0 0 0 2
Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 0 0 0 0 0 0 2 2
Familial thoracic aortic aneurysm and aortic dissection 0 2 0 0 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 0 0 2
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 0 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 0 2 2
Osteogenesis imperfecta type 1, mild 2 0 0 0 0 0 0 2
Postmenopausal osteoporosis 2 0 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Stickler syndrome type 2 1 1 0 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Abnormal bleeding 0 1 0 0 0 0 0 1
Bruising susceptibility; Fragile skin; Joint hypermobility 0 1 0 0 0 0 0 1
COL1A1-related Ehlers-Danlos syndrome 0 1 0 0 0 0 0 1
COL1A1-related osteogenesis imperfecta 0 0 1 0 0 0 0 1
Congenital heart disease 0 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type, 1 0 0 1 0 0 0 0 1
Ehlers-Danlos/osteogenesis imperfecta syndrome 0 0 0 1 0 0 0 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 0 1
Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormal pinna morphology; Anteverted nares; Blue sclerae; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Flat occiput; Premature birth; Triangular face; Wide anterior fontanel; Low-set, posteriorly rotated ears; Osteopenia; Generalized hypotonia; Bowing of limbs due to multiple fractures; Recurrent long bone fractures; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia 1 0 0 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 0 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Ehlers-Danlos syndrome 0 0 0 0 0 0 1 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 0 0 0 0 1 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 0 0 0 0 0 0 1 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 0 0 0 0 1 1
Joint hypermobility; Reduced bone mineral density 1 0 0 0 0 0 0 1
Keratoconus 0 1 0 0 0 0 0 1
Multiple epiphyseal dysplasia type 1 1 0 0 0 0 0 0 1
OSTEOGENESIS IMPERFECTA, TYPE IIC 1 0 0 0 0 0 0 1
Osteogenesis imperfecta type 2, thin-bone 1 0 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III 1 0 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 1 0 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 0 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Ehlers-Danlos syndrome, classic type, 1 0 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 0 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 0 1 0 0 0 0 0 1
Osteogenesis imperfecta, type III/IV 1 0 0 0 0 0 0 1
Osteogenesis imperfecta; Ehlers-Danlos syndrome 0 0 0 0 0 0 1 1
Osteoporosis 0 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Phenylketonuria 0 1 0 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 0 1 1
Wiedemann-Rautenstrauch-like progeroid syndrome 0 1 0 0 0 0 0 1
sellar metastasis from primary bronchial carcinoid tumor 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 159
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 734 78 512 933 157 0 0 2414
GeneDx 190 28 223 169 83 0 0 693
Ambry Genetics 10 7 180 351 30 0 0 578
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 25 69 123 74 0 0 316
PreventionGenetics, part of Exact Sciences 32 23 37 74 12 0 0 178
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 24 25 32 37 38 0 0 156
Genome Diagnostics Laboratory, The Hospital for Sick Children 22 21 52 29 18 0 0 142
CeGaT Center for Human Genetics Tuebingen 19 8 42 50 16 0 0 135
Mayo Clinic Laboratories, Mayo Clinic 6 8 49 42 28 0 0 133
Illumina Laboratory Services, Illumina 2 0 100 47 63 0 0 132
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 89 17 0 0 0 0 0 106
Revvity Omics, Revvity 40 20 24 0 0 0 0 84
Athena Diagnostics 26 6 13 2 36 0 0 83
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 83 83
Breakthrough Genomics, Breakthrough Genomics 0 0 6 20 51 0 0 77
Eurofins Ntd Llc (ga) 18 6 29 4 19 0 0 76
Department of Medical Sciences, Uppsala University 68 1 0 1 0 0 0 70
OMIM 64 0 0 0 0 3 0 67
3billion 41 16 7 0 0 0 0 64
Fulgent Genetics, Fulgent Genetics 17 5 14 8 4 0 0 48
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 4 16 16 0 0 36
Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital 25 3 4 1 0 0 0 33
Genetics Department, Polish Mother's Memorial Hospital Research Institute 17 11 1 0 0 0 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 2 2 1 0 0 0 26
Dasa 19 6 0 0 0 0 0 25
Baylor Genetics 9 8 6 0 1 0 0 24
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 7 13 0 0 0 22
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 7 13 0 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 7 6 3 0 0 0 22
Juno Genomics, Hangzhou Juno Genomics, Inc 13 8 1 0 0 0 0 22
Mendelics 11 3 1 2 1 0 0 18
Clinical Genetics and Genomics, Karolinska University Hospital 12 3 1 0 0 0 0 16
Blueprint Genetics 7 5 3 0 0 0 0 15
Molecular Genetics laboratory, Necker Hospital 0 14 0 0 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 8 3 0 0 13
Autoinflammatory diseases unit, CHU de Montpellier 10 2 0 0 0 0 0 12
Clinical Genetics Laboratory, Skane University Hospital Lund 5 1 5 1 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 5 5 2 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 5 0 0 0 0 11
Institute of Human Genetics, Cologne University 6 4 1 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 7 0 0 0 0 0 11
Variantyx, Inc. 6 5 0 0 0 0 0 11
Centre of Medical Genetics, University Hospital Muenster 5 2 2 1 0 0 0 10
Laboratory of Genetics, Children's Clinical University Hospital Latvia 3 0 1 5 1 0 0 10
Genome-Nilou Lab 0 0 0 0 9 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 0 0 0 0 0 0 9
MGZ Medical Genetics Center 4 3 2 0 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 3 0 0 8
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 3 5 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 3 1 0 0 0 8
Molecular Genetics, Royal Melbourne Hospital 4 1 1 1 1 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 1 0 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 3 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 3 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 3 4 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 6 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Institute of Human Genetics, University of Goettingen 1 3 2 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 0 6
MVZ Martinsried, Medicover Genetics 3 3 0 0 0 0 0 6
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 3 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 1 0 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 2 0 0 0 0 4
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 3 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 2 0 0 0 0 0 4
Institute of Rare Diseases, West China Hospital, Sichuan University 1 3 0 0 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 3 1 0 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 0 1 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 2 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 0 3
Department of Human Genetics, Medical Research Institute, Alexandria University 2 1 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 1 0 0 0 0 3
Breda Genetics srl, Breda Genetics srl 1 0 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 1 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 0 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 2 0 0 0 0 0 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 2 0 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 2
Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine 1 1 0 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 1 0 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Human Development and Health, University of Southampton 0 0 0 0 0 0 1 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Key Laboratory of Endocrinology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 0 1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region 0 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 0 1
Neurosurgery, Yale University School of Medicine 0 0 1 0 0 0 0 1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 0 1
Paediatric Orthopaedics Research Lab, Christian Medical College 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City 0 0 1 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1

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