ClinVar Miner

Variants studied for childhood-onset nemaline myopathy

Included ClinVar conditions (14):
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
923 708 3607 6548 659 16 11501

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEB 560 445 2236 4769 415 7 7757
NEB, RIF1 205 180 579 1255 112 3 2129
KBTBD13 4 2 305 182 78 1 545
ACTA1 105 57 142 104 16 0 400
TPM3 13 13 168 85 10 4 280
KLHL41 21 5 128 85 15 0 251
LOC126806373, NEB 5 2 31 62 3 0 91
TPM2 8 3 16 6 8 1 41
ACTA1, LOC122152321 0 0 0 0 2 0 2
ARL5A, CACNB4, NEB 2 0 0 0 0 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, 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

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 849 263 2483 6436 578 0 10609
Natera, Inc. 33 16 1012 150 104 0 1315
Illumina Laboratory Services, Illumina 0 3 498 64 136 0 701
Counsyl 18 202 118 13 0 0 351
Myriad Genetics, Inc. 3 200 1 0 0 0 204
Fulgent Genetics, Fulgent Genetics 17 15 51 24 2 0 109
Genome-Nilou Lab 0 0 8 3 69 0 80
Baylor Genetics 7 7 47 0 0 0 61
OMIM 34 0 0 0 0 0 34
Mendelics 11 10 1 0 5 0 27
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 10 8 0 0 0 22
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 2 9 1 0 0 19
Revvity Omics, Revvity 0 2 13 0 0 0 15
Genetic Services Laboratory, University of Chicago 9 3 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 7 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 7 0 0 0 12
MGZ Medical Genetics Center 3 6 2 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 5 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 1 2 8 0 0 0 11
Harry Perkins Institute Of Medical Research, University Of Western Australia 3 5 2 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 1 0 0 0 0 8
GeneReviews 1 0 0 0 0 5 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 1 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 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
3billion 2 1 1 0 0 0 4
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
Breda Genetics srl 1 1 1 0 0 0 3
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 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
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
Institute of Immunology and Genetics Kaiserslautern 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

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