ClinVar Miner

Variants studied for childhood-onset nemaline myopathy

Included ClinVar conditions (18):
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
980 861 3714 6841 665 16 12066

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEB 596 542 2247 4964 420 7 8071
NEB, RIF1 214 227 579 1309 113 3 2225
KBTBD13 4 3 370 184 78 1 610
ACTA1 113 62 156 115 16 0 436
TPM3 14 15 181 97 10 4 308
KLHL41 24 5 129 103 15 0 273
LOC126806373, NEB 5 2 31 63 3 0 92
TPM2 8 4 18 6 8 1 43
ACTA1, LOC122152321 0 0 0 0 2 0 2
ARL5A, CACNB4, NEB 2 0 0 0 0 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, FSAF1, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2 0 0 1 0 0 0 1
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 0 0 1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21 0 0 1 0 0 0 1
MVK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 896 283 2569 6728 586 0 11062
Natera, Inc. 33 16 1012 150 104 0 1315
Illumina Laboratory Services, Illumina 0 3 490 64 136 0 693
Counsyl 18 202 118 13 0 0 351
Fulgent Genetics, Fulgent Genetics 37 154 59 24 2 0 275
Myriad Genetics, Inc. 3 200 1 0 0 0 204
Genome-Nilou Lab 0 0 8 3 69 0 80
Baylor Genetics 7 7 48 0 0 0 62
Department of Pathology and Laboratory Medicine, Sinai Health System 3 3 32 3 0 0 41
OMIM 34 0 0 0 0 0 34
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 3 16 1 1 0 29
Mendelics 11 10 1 0 5 0 27
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 13 5 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 1 7 13 0 0 0 21
Revvity Omics, Revvity 0 2 13 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 7 0 0 0 13
Genetic Services Laboratory, University of Chicago 9 3 0 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 7 0 0 0 12
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 5 0 0 0 0 12
MGZ Medical Genetics Center 3 6 2 0 0 0 11
3billion 7 3 1 0 0 0 11
Harry Perkins Institute Of Medical Research, University Of Western Australia 3 5 2 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 5 1 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 1 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 0 4 0 1 0 7
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 3 2 2 0 0 0 7
GeneReviews 1 0 0 0 0 5 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 1 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
NeuroMeGen, Hospital Clinico Santiago de Compostela 2 3 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 1 0 5
Genetics and Molecular Pathology, SA Pathology 3 0 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 4 0 0 0 0 4
Pediatric Department, Peking University First Hospital 4 0 0 0 0 0 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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 1 2 0 0 0 3
Breda Genetics srl 1 1 1 0 0 0 3
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 3 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
New York Genome Center 0 0 2 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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