ClinVar Miner

Variants studied for Nemaline myopathy 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
771 624 2844 6075 530 9 9977

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 559 441 2236 4759 415 7 7755
NEB, RIF1 205 180 577 1254 112 2 2128
LOC126806373, NEB 5 2 31 62 3 0 91
ARL5A, CACNB4, NEB 2 0 0 0 0 0 2
ACTA1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 739 221 1918 6002 485 0 9365
Natera, Inc. 33 16 1012 150 104 0 1315
Illumina Laboratory Services, Illumina 0 3 334 39 81 0 457
Counsyl 18 202 118 13 0 0 351
Myriad Genetics, Inc. 3 200 1 0 0 0 204
Genome-Nilou Lab 0 0 8 3 63 0 74
Baylor Genetics 3 3 38 0 0 0 44
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 8 7 0 0 0 19
Mendelics 9 5 1 0 2 0 17
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 0 8 1 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 6 0 0 0 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 5 4 0 0 0 0 9
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
OMIM 7 0 0 0 0 0 7
MGZ Medical Genetics Center 2 4 1 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 0 2 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 1 0 4
Pars Genome Lab 0 0 2 0 2 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 1 0 3
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 3 0 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 0 0 0 0 0 2
Pediatric Department, Peking University First Hospital 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 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
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 1 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

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