ClinVar Miner

Variants in gene FBN1

See also:
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
2607 1897 3388 2424 396 57 9045

Condition and significance breakdown #

Total conditions: 110
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 1802 410 1305 1632 180 0 5329
Marfan syndrome 678 938 1266 558 94 4 3242
Familial thoracic aortic aneurysm and aortic dissection 315 331 1457 1059 104 0 3075
not provided 420 381 923 405 183 2 2185
not specified 21 7 353 391 115 2 831
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 30 22 233 22 1 0 303
Acromicric dysplasia 12 4 81 26 81 0 203
FBN1-related disorder 22 19 61 88 7 2 199
Ectopia lentis 1, isolated, autosomal dominant 7 2 77 25 81 0 192
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 84 108 0 0 0 0 192
Stiff skin syndrome 6 2 75 25 81 0 189
Weill-Marchesani syndrome 0 1 73 32 74 0 180
Geleophysic dysplasia 0 1 0 26 81 0 108
Cardiovascular phenotype 45 19 27 1 0 0 92
Isolated thoracic aortic aneurysm 0 46 16 0 0 0 62
Connective tissue disorder 5 4 16 23 10 0 55
Progeroid and marfanoid aspect-lipodystrophy syndrome 15 4 13 0 0 0 31
Thoracic aortic aneurysm or dissection 13 10 2 0 0 0 25
Geleophysic dysplasia 2 8 5 2 0 0 0 13
See cases 5 3 5 0 0 0 13
Congenital aneurysm of ascending aorta; Acute aortic dissection 0 5 5 2 0 0 12
MASS syndrome 4 4 4 0 0 0 12
Weill-Marchesani syndrome 2, dominant 4 2 6 0 0 0 12
Familial aortopathy 5 4 0 0 0 0 9
Congenital scoliosis 2 0 6 0 0 0 8
Neonatal Marfan syndrome 8 0 0 0 0 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Acute myeloid leukemia 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 4 4
Familial ectopia lentis 2 2 0 0 0 0 4
Gastric cancer 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Inborn genetic diseases 2 0 1 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome 2 0 1 0 0 0 3
Thymoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Abnormality of connective tissue 0 2 0 0 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 1 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Loeys-Dietz syndrome 1 0 1 0 0 0 2
MARFAN SYNDROME, AUTOSOMAL RECESSIVE 2 0 0 0 0 0 2
Marfan syndrome, atypical 2 0 0 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Perrault syndrome 1 1 1 0 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Achondroplasia 0 1 0 0 0 0 1
Acromicric dysplasia; Geleophysic dysplasia 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 1
Aortic dissection 0 0 1 0 0 0 1
Ascending tubular aorta aneurysm; Scoliosis; Tall stature; Joint hypermobility; High myopia; Aortic aneurysm 1 0 0 0 0 0 1
Autosomal dominant FBN1-related disorders 1 0 0 0 0 0 1
Brugada syndrome 1 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital diaphragmatic hernia 0 1 0 0 0 0 1
Connective tissue dysplasia 1 0 0 0 0 0 1
Coronary artery dissection 0 0 1 0 0 0 1
Craniosynostosis syndrome 0 0 1 0 0 0 1
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate 0 0 1 0 0 0 1
Developmental cataract 0 0 1 0 0 0 1
Dilated aortic root 1 0 0 0 0 0 1
Disproportionate tall stature 0 0 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 0 0 0 1 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Familial thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 1 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 0 0 0 1 1
FNB1 POLYMORPHISM 0 0 0 0 1 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Heart disease 0 0 1 0 0 0 1
High palate; Arachnodactyly; Lens subluxation; Aortic dissection 1 0 0 0 0 0 1
High palate; Disproportionate tall stature; Mitral valve prolapse; Lumbar scoliosis; Myxomatous mitral valve degeneration 1 0 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Ischemic stroke; Arachnodactyly; Aortic root aneurysm; Dissecting aortic dilatation; Melanoma; High myopia; Ectopia lentis 1 0 0 0 0 0 1
Lipodystrophy - childhood onset 0 0 1 0 0 0 1
MARFAN SYNDROME, MILD 1 0 0 0 0 0 1
MARFAN SYNDROME, MILD VARIABLE 1 0 0 0 0 0 1
MARFAN SYNDROME, SEVERE CLASSIC 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Marfan syndrome, incomplete 0 0 1 0 0 0 1
Marfan syndrome; Congenital contractural arachnodactyly 0 1 0 0 0 0 1
Marfan syndrome; Left ventricular diastolic dysfunction 0 1 0 0 0 0 1
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis 0 0 0 0 0 1 1
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 1 1
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Isolated ectopia lentis 0 0 0 0 0 1 1
Metaphyseal chondrodysplasia 1 0 0 0 0 0 1
Mitral regurgitation; Aortic dissection; Ectopia lentis 0 1 0 0 0 0 1
Myopathy 0 1 0 0 0 0 1
Pectus excavatum; Inguinal hernia; Tall stature; Myopia; Joint hypermobility 1 0 0 0 0 0 1
Pectus excavatum; Tall stature; Positive thumb sign 0 0 1 0 0 0 1
Pes planus; Arachnodactyly; Mitral valve prolapse; Lens luxation; Aortic aneurysm 0 0 1 0 0 0 1
Pneumothorax - familial 0 0 1 0 0 0 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 1 0 0 0 0 1
Protrusio acetabuli; Dental crowding; High palate; Tall stature; Mitral regurgitation; Aortic root aneurysm; Ectopia lentis 0 1 0 0 0 0 1
Scoliosis; High palate; Pes planus; Myopia; Dolichocephaly; Mitral valve prolapse; Dilatation of the ascending aorta 1 0 0 0 0 0 1
Scoliosis; Pes planus; Myopia; Pectus carinatum; Striae distensae; Mitral valve prolapse; Aortic root aneurysm; Pes valgus; Ectopia lentis 1 0 0 0 0 0 1
Short stature; Wide mouth; Wide nasal bridge; Relative macrocephaly 0 1 0 0 0 0 1
Striae distensae; Mitral valve prolapse; Pulmonary artery dilatation 0 1 0 0 0 0 1
Structural eye disease 0 1 0 0 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 0 0 0 1
Tall stature 0 1 0 0 0 0 1
Tall stature; Myopia; Pectus carinatum; Lens subluxation 0 1 0 0 0 0 1
Thoracic aortic aneurysm 0 0 1 0 0 0 1
Thoracic aortic disease 1 0 0 0 0 0 1
Vascular dilatation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 203
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1805 411 1305 1636 180 0 5337
Color Diagnostics, LLC DBA Color Health 13 26 979 810 67 0 1895
GeneDx 330 258 672 329 182 0 1771
Ambry Genetics 303 246 498 531 40 0 1618
All of Us Research Program, National Institutes of Health 12 24 906 495 36 0 1473
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 96 148 342 256 54 0 896
Center for Medical Genetics Ghent, University of Ghent 163 339 168 12 0 0 681
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 51 34 79 84 57 0 305
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 35 73 112 52 33 0 305
Centre of Medical Genetics, University of Antwerp 164 107 24 0 0 0 295
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 60 99 69 25 29 2 284
CeGaT Center for Human Genetics Tuebingen 36 22 72 133 15 0 278
Fulgent Genetics, Fulgent Genetics 17 10 201 19 0 0 247
PreventionGenetics, part of Exact Sciences 21 14 60 113 35 0 243
Illumina Laboratory Services, Illumina 2 5 123 80 81 0 192
Mayo Clinic Laboratories, Mayo Clinic 32 22 35 11 25 0 125
Center for Human Genetics, Inc, Center for Human Genetics, Inc 32 34 27 27 0 0 120
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 35 22 18 23 15 0 113
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 40 47 14 3 6 0 110
Blueprint Genetics 18 60 22 2 0 0 102
Breakthrough Genomics, Breakthrough Genomics 0 1 6 34 52 0 93
3billion 25 31 22 1 0 0 79
Department of Laboratory Medicine and Genetics, Samsung Medical Center 18 25 26 0 0 0 69
Eurofins Ntd Llc (ga) 8 0 38 7 16 0 69
OMIM 65 0 1 0 1 0 67
Revvity Omics, Revvity 7 14 42 0 0 0 63
Department of Vascular Biology, Beijing Anzhen Hospital 0 46 16 0 0 0 62
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 35 10 13 1 0 0 59
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 21 14 14 4 2 0 55
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 1 7 14 29 0 54
Mendelics 20 14 8 5 6 0 53
Clinical Genetics Laboratory, Skane University Hospital Lund 17 24 10 0 0 0 51
Juno Genomics, Hangzhou Juno Genomics, Inc 21 20 9 0 0 0 50
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 2 10 26 9 0 49
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 2 0 0 0 48
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 32 9 4 0 0 0 45
Genome Diagnostics Laboratory, The Hospital for Sick Children 4 4 12 11 10 0 41
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 37 37
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 9 15 3 0 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 8 9 0 0 0 31
Clinical Genetics and Genomics, Karolinska University Hospital 14 12 1 0 0 0 27
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 17 2 0 0 0 27
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 11 3 1 0 0 26
AiLife Diagnostics, AiLife Diagnostics 3 1 21 0 0 0 25
NHS Central & South Genomic Laboratory Hub 13 9 3 0 0 0 25
Dasa 18 2 2 0 1 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 2 2 11 7 0 23
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 14 9 0 0 0 0 23
Institute of Human Genetics, University of Leipzig Medical Center 7 10 5 1 0 0 23
Baylor Genetics 7 2 12 0 0 0 21
Clinical and Biomedical Sciences, University of Exeter 9 5 6 0 0 0 20
CSER _CC_NCGL, University of Washington 0 0 12 6 1 0 19
Centre for Genomic and Experimental Medicine, University of Edinburgh 9 10 0 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 17 0 0 0 19
Institute of Human Genetics, Cologne University 6 8 5 0 0 0 19
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 5 3 0 0 0 18
deCODE genetics, Amgen 7 11 0 0 0 0 18
Centre of Medical Genetics, University Hospital Muenster 5 3 7 1 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 4 8 4 0 0 0 16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 3 8 1 0 15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 5 6 0 0 0 13
Institute of Human Genetics Munich, TUM University Hospital 10 3 0 0 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 6 3 0 13
MGZ Medical Genetics Center 1 6 6 0 0 0 13
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 2 6 0 0 0 12
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 7 5 0 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 3 0 0 0 0 12
Laboratory of Genetics, Children's Clinical University Hospital Latvia 6 2 0 3 1 0 12
MVZ Medizinische Genetik Mainz 2 5 5 0 0 0 12
University of Washington Center for Mendelian Genomics, University of Washington 0 5 5 2 0 0 12
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 4 6 1 0 0 0 11
Human Genetics Unit, University Of Colombo 6 3 2 0 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 4 5 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 5 5 0 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 11 0 11
Cohesion Phenomics 0 0 0 6 4 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Variantyx, Inc. 5 5 0 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 4 0 0 0 5 0 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 5 4 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 1 4 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Johns Hopkins Genomics, Johns Hopkins University 1 1 5 1 0 0 8
Molecular Genetics, Royal Melbourne Hospital 1 2 1 3 1 0 8
Suma Genomics 5 2 1 0 0 0 8
Department of Human Genetics, Hannover Medical School 1 5 1 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 3 0 1 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 0 3 2 0 7
Genetics and Molecular Pathology, SA Pathology 1 4 2 0 0 0 7
Human Genetics Bochum, Ruhr University Bochum 2 4 1 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 2 4 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 1 4 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 2 2 1 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 3 0 0 0 5
Zhou Lab, Center of Laboratory Medicine, Fuwai Hospital 5 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 1 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 3 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 1 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 2 1 0 0 0 4
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 1 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 2 0 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 0 0 0 0 0 3
Department of Medical Genetics, Gazi University 3 0 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 2 1 0 0 0 0 3
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine 2 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 1 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 3
Arcensus 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Healthincode, Healthincode group 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Yu Lab, Soochow University 1 1 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centro de Tecnologia Celular, Instituto Nacional de Cardiologia 1 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Endocrinology, The Second Affiliated Hospital of Guangdong Medical University 0 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Friuli Venezia Giulia Coordinating Center for Rare Diseases, National Health Service, Italy 1 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology, Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Pediatric Department, The First Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 0 1
Senckenberg Centre for Human Genetics, Bürgerhospital und Clementine Kinderhospital gGmbH 1 0 0 0 0 0 1
Swedish National ChiCaP Initative, Genomic Medicine Sweden 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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