ClinVar Miner

Variants studied for Nemaline myopathy 2

Coded as:
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
840 900 3391 6486 539 15 11114

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEB 614 651 2664 5079 422 11 8645
NEB, RIF1 219 244 694 1343 114 4 2369
LOC126806373, NEB 5 4 33 64 3 0 97
ARL5A, CACNB4, NEB 2 0 0 0 0 0 2
ACTA1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 799 246 1958 6411 496 0 9910
Natera, Inc. 68 273 1535 155 104 0 2135
Illumina Laboratory Services, Illumina 1 3 329 39 81 0 453
Counsyl 18 202 118 13 0 0 351
Myriad Genetics, Inc. 6 203 0 0 0 0 209
Genome-Nilou Lab 0 0 8 3 63 0 74
Baylor Genetics 3 3 38 0 0 0 44
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 0 15 1 1 0 25
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 11 6 0 0 0 21
Mendelics 9 4 2 0 2 0 17
Neuberg Centre For Genomic Medicine, NCGM 2 7 6 0 0 0 15
3billion 9 4 1 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 7 0 0 0 14
Kariminejad - Najmabadi Pathology & Genetics Center 2 6 4 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Fulgent Genetics, Fulgent Genetics 3 1 6 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 4 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 6 2 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 4 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 6 0 2 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 4 1 0 0 0 8
MGZ Medical Genetics Center 2 4 1 0 0 0 7
OMIM 7 0 0 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 6 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 0 2 0 0 0 5
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 1 2 2 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
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Pars Genome Lab 0 0 2 0 2 0 4
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 1 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Otogenetics 0 1 1 0 0 0 2
Pediatric Department, Peking University First Hospital 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 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
Dasa 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 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
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 1

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