ClinVar Miner

Variants in gene NEB

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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 not provided total
690 1003 3615 5418 465 56 9788

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nemaline myopathy 2 614 651 2664 5079 422 11 8645
not provided 71 60 1102 375 127 0 1607
Inborn genetic diseases 3 2 839 16 0 0 860
not specified 0 0 146 307 170 0 540
Arthrogryposis multiplex congenita 6 62 257 17 1 46 0 382
Nemaline myopathy 66 129 40 3 3 0 231
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 16 106 64 18 2 0 206
NEB-related disorder 11 7 36 96 13 0 162
Gastric cancer 0 0 0 0 0 10 10
Malignant tumor of esophagus 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Acute myeloid leukemia 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Limb-girdle muscular dystrophy 0 0 4 0 0 0 4
See cases 0 0 3 1 0 0 4
Cervical cancer 0 0 0 0 0 3 3
Congenital myopathy 2 1 0 0 0 0 3
Congenital structural myopathy 0 0 3 0 0 0 3
Melanoma 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Nebulin-related early-onset distal myopathy 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Actin accumulation myopathy 0 0 0 0 0 1 1
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 0 1
Distal myopathy 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 0 1 0 0 0 1
Nemaline myopathy 2; Nemaline myopathy 0 0 0 0 0 1 1
Non-immune hydrops fetalis 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 585 160 1584 5019 389 0 7737
Natera, Inc. 38 202 1224 136 88 0 1688
Ambry Genetics 3 2 839 16 0 0 860
GeneDx 24 22 341 350 116 0 853
Revvity Omics, Revvity 21 33 688 23 1 0 766
Illumina Laboratory Services, Illumina 0 1 247 37 64 0 349
PreventionGenetics, part of Exact Sciences 9 7 36 167 124 0 343
Baylor Genetics 53 254 29 0 0 0 334
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 37 122 29 53 0 272
CeGaT Center for Human Genetics Tuebingen 8 3 101 118 18 0 248
Counsyl 11 128 66 6 0 0 211
Eurofins Ntd Llc (ga) 11 1 116 9 56 0 193
Fulgent Genetics, Fulgent Genetics 16 103 44 16 2 0 180
Myriad Genetics, Inc. 6 167 0 0 0 0 173
Mayo Clinic Laboratories, Mayo Clinic 0 1 65 28 77 0 171
Breakthrough Genomics, Breakthrough Genomics 0 0 23 55 87 0 165
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 25 95 43 0 0 0 163
Athena Diagnostics 1 1 32 17 62 0 113
Genetic Services Laboratory, University of Chicago 5 2 15 49 8 0 79
Genome-Nilou Lab 0 0 7 2 50 0 59
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 2 11 32 0 50
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 6 42 1 0 50
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 21 25 0 48
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 42 42
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 36 2 0 0 39
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 5 11 6 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 1 10 5 1 0 22
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 10 4 2 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 1 7 8 0 0 0 16
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 4 3 2 3 2 0 14
Kariminejad - Najmabadi Pathology & Genetics Center 1 5 6 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 5 0 0 0 10
3billion 5 2 2 0 0 0 9
Mendelics 3 3 1 0 2 0 9
OMIM 9 0 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 1 5 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 4 1 1 0 7
Dasa 7 0 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 1 2 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 5 2 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 1 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 5 0 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 1 0 1 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 1 0 0 5
MGZ Medical Genetics Center 2 3 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 2 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 2 1 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 0 0 2 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Pediatric Department, Peking University First Hospital 2 0 0 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1

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