ClinVar Miner

Variants in gene combination NEB, RIF1

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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
246 384 936 1390 121 53 2667

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nemaline myopathy 2 219 244 694 1343 114 4 2369
not provided 48 27 287 63 32 0 427
Inborn genetic diseases 1 1 199 6 0 0 207
Arthrogryposis multiplex congenita 6 33 122 3 0 13 0 171
not specified 0 0 37 63 34 0 114
Nemaline myopathy 42 48 16 1 0 1 98
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 23 55 19 1 0 0 97
NEB-related disorder 5 4 12 30 1 0 52
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 5 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
See cases 1 2 0 0 0 0 3
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
Ovarian cancer 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Abnormality of the musculature 1 0 0 0 0 0 1
Actin accumulation myopathy 0 0 0 0 0 1 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Cervical cancer 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 0 1
Congenital myopathy 0 0 0 1 0 0 1
Congenital structural myopathy 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
Low-set ears; Dysphagia; Abnormality of the neck 1 0 0 0 0 0 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 0 0 0 0 1
Nebulin-related early-onset distal myopathy 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Peripheral neuropathy 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 207 84 357 1335 105 0 2088
Natera, Inc. 30 70 297 16 16 0 429
Revvity Omics, Revvity 22 18 186 4 0 0 230
GeneDx 24 8 106 58 26 0 222
Ambry Genetics 1 1 199 6 0 0 207
Baylor Genetics 30 119 13 0 0 0 162
Counsyl 7 74 51 7 0 0 139
Illumina Laboratory Services, Illumina 3 1 76 2 17 0 99
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 12 28 9 19 0 94
PreventionGenetics, part of Exact Sciences 5 2 12 45 24 0 88
Fulgent Genetics, Fulgent Genetics 19 51 13 1 0 0 84
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 15 37 17 0 0 0 69
CeGaT Center for Human Genetics Tuebingen 7 1 15 21 2 0 46
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 46 46
Eurofins Ntd Llc (ga) 3 0 27 3 12 0 45
Breakthrough Genomics, Breakthrough Genomics 0 0 4 13 21 0 38
Myriad Genetics, Inc. 0 35 0 0 0 0 35
Mayo Clinic Laboratories, Mayo Clinic 1 2 9 1 15 0 28
Athena Diagnostics 1 0 8 3 13 0 25
Genetic Services Laboratory, University of Chicago 1 2 4 13 2 0 22
Genome-Nilou Lab 0 0 1 1 13 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 3 2 9 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 2 0 8 0 12
Mendelics 6 1 2 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 4 3 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 1 6 0 0 8
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 8 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 3 0 0 0 8
3billion 4 2 1 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 5 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 3 3 0 0 0 7
OMIM 7 0 0 0 0 0 7
Dasa 4 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 4
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 1 0 1 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 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
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 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 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 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 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Otogenetics 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1

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