ClinVar Miner

Variants in gene NF1

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
5134 1555 7073 4837 573 247 16891

Condition and significance breakdown #

Total conditions: 141
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neurofibromatosis, type 1 4453 932 4928 3868 435 15 13483
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 1003 299 3407 1823 39 0 6571
not provided 872 401 1224 525 149 83 3055
Hereditary cancer-predisposing syndrome 119 35 598 450 69 0 1206
not specified 49 8 186 250 118 16 571
Juvenile myelomonocytic leukemia 89 66 365 1 0 0 521
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 71 47 294 97 9 0 512
NF1-related disorder 74 21 125 190 12 0 422
Neurofibromatosis, familial spinal 8 1 84 43 57 0 188
Neurofibromatosis-Noonan syndrome 32 12 78 16 45 0 183
Café-au-lait macules with pulmonary stenosis 20 9 86 20 28 0 163
Neoplasm 5 38 6 0 0 0 49
Neurofibromatosis, type 1; Tibial pseudarthrosis 37 1 1 0 0 0 39
Gastric cancer 20 0 0 0 0 6 26
Familial cancer of breast 0 0 2 0 0 17 19
Embryonal rhabdomyosarcoma 16 2 0 0 0 0 18
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 2 0 0 14 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 17 17
Malignant tumor of urinary bladder 11 0 0 0 0 5 16
Hereditary breast ovarian cancer syndrome 0 2 13 0 0 0 15
Melanoma 0 0 0 0 0 15 15
See cases 8 4 2 0 0 0 14
Inborn genetic diseases 7 1 3 0 0 0 11
Diffuse midline glioma, H3 K27M-mutant 9 1 0 0 0 0 10
Glioma susceptibility 1 0 0 0 0 0 10 10
Neurofibroma 9 1 0 0 0 0 10
Rhabdomyosarcoma 8 2 0 0 0 0 10
Abnormality of the skin 8 1 0 0 0 0 9
Lung cancer 0 0 0 0 0 9 9
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Acute myeloid leukemia 0 0 0 0 0 7 7
Cafe au lait spots, multiple 1 2 3 0 0 0 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Pilocytic astrocytoma 4 2 0 0 0 0 6
Atypical coarctation of aorta 0 5 0 0 0 0 5
Hereditary cancer 0 0 1 4 0 0 5
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome 0 1 1 0 0 3 5
Ovarian cancer 0 0 0 0 5 0 5
Autosomal dominant NF1-related disorders 2 2 0 0 0 0 4
Cervical cancer 0 0 0 0 0 4 4
Chromosome 17q11.2 deletion syndrome, 1.4Mb 2 0 0 1 1 0 4
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
Dysembryoplastic neuroepithelial tumor 3 1 0 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Intellectual disability 2 0 1 1 0 0 4
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2 0 2 0 0 0 4
RASopathy 0 4 0 0 0 0 4
Rosette-forming glioneuronal tumor 2 2 0 0 0 0 4
Sarcoma 0 0 0 0 0 4 4
Cafe au lait spots, multiple; Tibial pseudarthrosis 3 0 0 0 0 0 3
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 2 0 1 0 0 0 3
Neurofibromatosis 2 1 0 0 0 0 3
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 0 3 0 0 0 0 3
Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 2 0 0 0 0 1 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Pheochromocytoma/paraganglioma syndrome 1 0 0 0 0 0 3 3
Pigmentary skin disorders 1 0 2 0 0 0 3
Squamous cell lung carcinoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Tibial pseudarthrosis 3 0 0 0 0 0 3
Astrocytoma IDH-mutant 0 0 2 0 0 0 2
Cafe-au-lait spot 2 0 0 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Diffuse astrocytoma, MYB- or MYBL1-altered 0 2 0 0 0 0 2
Ewing sarcoma; Neurofibromatosis, type 1 2 0 0 0 0 0 2
Giant cell glioblastoma 2 0 0 0 0 0 2
IDH-wildtype glioblastoma 2 0 0 0 0 0 2
Juvenile myelomonocytic leukemia; Neurofibroma 0 2 0 0 0 0 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 1 1 0 0 0 2
Optic nerve glioma 2 0 0 0 0 0 2
Primary brain neoplasm 0 2 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Abnormal lymph node morphology; Increased nuchal translucency; Cervical lymphadenopathy 1 0 0 0 0 0 1
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 1 0 0 0 1
Adenocarcinoma of the large intestine 0 1 0 0 0 0 1
Atypical teratoid rhabdoid tumor 0 1 0 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 0 1
Bardet-Biedl syndrome 9 1 0 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Axillary freckling; Large cafe-au-lait macules with irregular margins; Lisch nodules; Delayed fine motor development; Inguinal freckling 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Delayed speech and language development; Premature birth; Floppy infant 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Motor delay; Focal-onset seizure 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Abnormality of vision 0 1 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Axillary freckling 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Axillary freckling; Inguinal freckling 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Cafe-au-lait spot; Axillary freckling; Inguinal freckling 0 1 0 0 0 0 1
Cafe au lait spots, multiple; Optic nerve glioma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Subcutaneous neurofibroma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Thoracic scoliosis; Subcutaneous neurofibroma 0 1 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Plexiform neurofibroma 0 1 0 0 0 0 1
Cafe-au-lait spot; Macrocephaly; Tibial pseudarthrosis 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Chromosome 17q11.2 deletion syndrome, 1.4Mb; Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 0 0 0 1 0 0 1
Cleft palate 0 0 1 0 0 0 1
Colorectal cancer 0 0 0 0 0 1 1
Craniopharyngioma 0 0 1 0 0 0 1
Developmental defect during embryogenesis 1 0 0 0 0 0 1
Diffuse intrinsic pontine glioma 0 0 1 0 0 0 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Fetal anomalies with a likely genetic cause 0 0 1 0 0 0 1
Ganglioglioma 0 1 0 0 0 0 1
Glioma 1 0 0 0 0 0 1
Hereditary pheochromocytoma and paraganglioma 0 0 1 0 0 0 1
Hyperactivity; Febrile seizure (within the age range of 3 months to 6 years); Visual loss; Cafe-au-lait spot; Strabismus; Abnormality of vision; Abnormal electroretinogram; Abnormal macular morphology; Abnormal macular pigmentation; EEG with generalized slow activity 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia; Cafe-au-lait spot 1 0 0 0 0 0 1
Keratoconus 0 0 1 0 0 0 1
Lisch nodules; Subcutaneous neurofibroma 1 0 0 0 0 0 1
Lymphedema 0 0 0 1 0 0 1
Lynch syndrome 0 1 0 0 0 0 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 1 0 0 0 1
Malignant peripheral nerve sheath tumor 1 0 0 0 0 0 1
Meningioma 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Mosaic neurofibromatosis type 1 1 0 0 0 0 0 1
Moyamoya angiopathy 0 0 1 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Myeloproliferative neoplasm, unclassifiable 1 0 0 0 0 0 1
Myopathy, centronuclear, 5 0 0 0 0 1 0 1
Neoplasm of brain 0 1 0 0 0 0 1
Neurocutaneous syndrome 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Neuroepithelial neoplasm 1 0 0 0 0 0 1
Neurofibrmatosis type 1 1 0 0 0 0 0 1
Neurofibroma; Vascular dilatation 1 0 0 0 0 0 1
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1 0 1 0 0 0 0 1
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Pheochromocytoma 1 0 0 0 0 0 1
Port-wine stain with oculocutaneous melanosis 1 0 0 0 0 0 1
Precursor B-cell acute lymphoblastic leukemia 0 1 0 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Primary intracranial sarcoma, DICER1-mutant 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
Spinal neurofibroma 1 0 0 0 0 0 1
Tuberous sclerosis syndrome 0 0 0 1 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 255
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3943 286 4168 3815 370 0 12582
Ambry Genetics 1111 321 3646 2141 50 0 7140
GeneDx 670 241 901 399 110 1 2322
Genome-Nilou Lab 457 125 945 556 86 0 2169
Baylor Genetics 91 69 376 1 0 0 537
PreventionGenetics, part of Exact Sciences 65 15 140 232 60 0 512
Fulgent Genetics, Fulgent Genetics 41 27 281 92 0 0 441
CeGaT Center for Human Genetics Tuebingen 118 38 63 163 24 0 406
Quest Diagnostics Nichols Institute San Juan Capistrano 71 53 235 20 21 0 400
Genome Diagnostics Laboratory, The Hospital for Sick Children 183 94 65 23 25 0 390
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 56 30 109 115 73 0 383
Sema4, Sema4 4 3 161 141 48 0 357
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 123 25 46 41 68 0 303
Center for Human Genetics, Inc, Center for Human Genetics, Inc 103 109 40 8 0 0 260
Medical Genetics, University of Parma 118 64 33 12 8 0 235
NHS Central & South Genomic Laboratory Hub 148 36 8 1 0 0 193
3billion 107 40 24 0 0 0 171
Juno Genomics, Hangzhou Juno Genomics, Inc 107 45 13 0 0 0 165
UAB Medical Genomics Laboratory, UAB Medicine 165 0 0 0 0 0 165
Illumina Laboratory Services, Illumina 8 1 86 32 45 0 142
Mendelics 49 10 49 19 7 0 134
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 123 123
Mayo Clinic Laboratories, Mayo Clinic 38 31 19 23 12 0 123
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 65 34 6 0 0 0 102
Athena Diagnostics 55 9 21 3 13 0 101
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 82 17 1 0 0 0 100
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 76 18 4 0 0 0 98
Genetic Services Laboratory, University of Chicago 3 2 41 34 17 0 97
Breakthrough Genomics, Breakthrough Genomics 3 0 11 25 47 0 86
KCCC/NGS Laboratory, Kuwait Cancer Control Center 8 3 0 23 58 0 86
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 5 19 20 33 0 86
Department of Pathology and Laboratory Medicine, Sinai Health System 3 42 8 19 12 0 84
Institute of Human Genetics, University of Leipzig Medical Center 54 19 10 0 0 0 83
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 7 39 9 18 7 0 79
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 30 20 24 0 0 0 74
UniProtKB/Swiss-Prot 0 0 0 0 0 73 73
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 33 0 2 3 33 0 71
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 1 3 23 28 12 0 67
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 33 14 18 0 0 0 65
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 19 4 39 0 1 0 63
MGZ Medical Genetics Center 30 10 18 0 0 0 58
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 50 0 6 1 0 0 57
Centre for Mendelian Genomics, University Medical Centre Ljubljana 31 10 12 0 2 0 55
Dasa 38 6 1 5 0 0 50
Department of Genetics, Sultan Qaboos University Hospital 42 5 1 0 0 0 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 40 3 4 0 0 0 47
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 43 1 1 0 0 0 45
OMIM 44 0 0 0 0 0 44
Revvity Omics, Revvity 22 10 12 0 0 0 44
Molecular Pathology, Peter Maccallum Cancer Centre 28 3 9 1 0 0 41
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 11 2 24 3 0 0 40
Clinical Genetics Laboratory, Skane University Hospital Lund 20 10 5 0 0 0 35
Laboratory of Genetics, Children's Clinical University Hospital Latvia 16 4 3 11 1 0 35
Neuberg Centre For Genomic Medicine, NCGM 21 12 1 0 0 0 34
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 19 3 0 2 7 0 31
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 9 17 0 28
Variantyx, Inc. 17 11 0 0 0 0 28
Dubai Health Genomic Medicine Center, Dubai Health 16 10 0 0 0 0 26
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 0 2 9 4 0 25
Medical and Scientific Branch, Hong Kong Genome Institute 15 8 0 0 0 0 23
GeneKor MSA 1 0 13 0 8 0 22
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 15 5 0 0 0 0 20
Laboratory for Genotyping Development, RIKEN 20 0 0 0 0 0 20
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 18 18
Clinical Genomics Laboratory, Washington University in St. Louis 7 0 9 0 0 0 16
ITMI 0 0 0 0 0 16 16
Institute of Medical Genetics, University of Zurich 12 2 1 1 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 7 1 0 0 0 16
Myriad Genetics, Inc. 13 3 0 0 0 0 16
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 2 13 0 0 0 15
Centre of Medical Genetics, University Hospital Muenster 10 4 1 0 0 0 15
Department of Human Genetics, Hannover Medical School 10 4 1 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 10 2 3 0 0 0 15
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 11 0 2 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 0 5 0 1 0 13
Johns Hopkins Genomics, Johns Hopkins University 2 3 6 1 1 0 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 11 1 0 0 0 0 12
Institute of Human Genetics, Medical University Innsbruck 12 0 0 0 0 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 4 2 3 0 11
Center of Genomic medicine, Geneva, University Hospital of Geneva 9 1 1 0 0 0 11
Laboratory of Urology, Hospital Clinic de Barcelona 11 0 0 0 0 0 11
Suma Genomics 11 0 0 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 7 0 0 0 0 10
Blueprint Genetics 4 4 2 0 0 0 10
Gharavi Laboratory, Columbia University 1 1 8 0 0 0 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 3 0 0 0 0 9
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 5 4 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 8 1 0 0 0 0 9
Kariminejad - Najmabadi Pathology & Genetics Center 8 1 0 0 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 5 3 0 9
Medical Molecular Genetics Department, National Research Center 6 3 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 2 2 3 0 0 8
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 6 2 0 0 0 0 8
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 8 0 0 0 0 0 8
Human Genetics Bochum, Ruhr University Bochum 4 4 0 0 0 0 8
Institute of Human Genetics Munich, TUM University Hospital 5 3 0 0 0 0 8
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 2 4 0 0 0 8
MVZ Medizinische Genetik Mainz 6 0 2 0 0 0 8
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 5 2 0 0 0 0 7
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 0 0 0 0 0 7
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 3 1 1 0 0 7
New York Genome Center 3 0 4 0 0 0 7
Swedish National ChiCaP Initative, Genomic Medicine Sweden 7 0 0 0 0 0 7
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 5 1 0 0 0 0 6
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 6 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 1 1 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Institute of Human Genetics, Cologne University 1 3 2 0 0 0 6
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 6 6
OLLIN Analises Genomicas, OLLIN 4 2 0 0 0 0 6
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 4 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 1 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 5 0 5
MVZ Dr. Eberhard & Partner Dortmund 3 2 0 0 0 0 5
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 1 1 2 0 5
Yale Center for Mendelian Genomics, Yale University 0 5 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 3 0 0 0 5
Academic Department of Medical Genetics, University of Cambridge 1 3 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 1 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 1 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Genesis Genomics 1 3 0 0 0 0 4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 4 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 2 0 2 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 2 0 2 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 4 0 0 0 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 3 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 0 4
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 2 1 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 3 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 1 0 0 0 3
Department of Research and Development, Institute Hermes Pardini 3 0 0 0 0 0 3
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 2 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 3 0 0 0 0 0 3
Genetics Department, Catlab 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 3
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 1 1 1 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 3
Pars Genome Lab 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 1 0 0 0 3
Swedish Neurofibromatosis Center, Swedish Medical Center 2 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
CGC Genetics, Unilabs 0 2 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 1 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 2 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department Of Biochemistry, Hamamatsu University School Of Medicine 1 1 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 2 0 0 0 0 0 2
Department of Medical Genetics, Gazi University 0 2 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 2 0 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 2 0 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 2 0 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 1 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Molecular Oncology Initiative, University of California, San Francisco 2 0 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
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Sun Health (Beijing), Ltd. 2 0 0 0 0 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 1 0 0 0 0 2
Bionano Laboratories 0 0 1 0 0 0 1
CHARM Consortium 0 1 0 0 0 0 1
Carson lab, Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 1
Catlab - Consorci Sanitari de Terrassa 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Clinical Genomics, G42 Labs 1 0 0 0 0 0 1
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University of Medicine 1 0 0 0 0 0 1
Department of Genomics, ADN Uruguay 1 0 0 0 0 0 1
Department of Medicine, University of Texas Health Science Center at San Antonio 1 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 0 0 0 0 0 1 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
EVOGEN 0 1 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 1
Fan Lab, Zhengzhou University 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 1 0 0 0 0 0 1
Hongqi Zhang Laboratory, Xiangya Hospital, Central South University 0 1 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 1
KK Women’s and Children’s Hospital 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Laboratory of Reproductive Genetics, Women’s Hospital, School of Medicine, Zhejiang University 0 1 0 0 0 0 1
Liping Wei Laboratory, Peking University 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 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
Otolaryngology - Head and Neck Surgery, The General Hospital of the PLA Rocket Force 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 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 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
The Endocrine Laboratory, Qilu Hospital, Shandong University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Wasik Lab, Fox Chase Cancer Center 0 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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