ClinVar Miner

Variants studied for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
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
412 314 2116 1417 274 1 4200

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEB 227 189 1358 1051 159 1 2751
NEB, RIF1 90 87 342 230 32 0 708
KBTBD13 4 1 139 65 48 0 244
ACTA1 59 27 79 21 11 0 188
TPM3 11 7 132 23 6 0 174
KLHL41 12 0 52 23 10 0 97
TPM2 8 2 14 4 8 0 36
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
ARL5A, CACNB4, NEB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 324 91 1428 1327 204 0 3374
Illumina Clinical Services Laboratory,Illumina 0 2 499 64 136 0 701
Natera, Inc. 11 6 423 105 83 0 628
Counsyl 22 203 118 13 0 0 356
Baylor Genetics 7 5 47 0 0 0 59
OMIM 46 0 0 0 0 0 46
Mendelics 7 8 1 0 5 0 21
Genetic Services Laboratory, University of Chicago 9 3 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 4 2 6 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 5 4 0 0 0 0 9
Institute of Human Genetics, Klinikum rechts der Isar 7 1 0 0 0 0 8
GeneReviews 6 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 1 3 2 0 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 1 0 5
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
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
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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, Oman 1 0 0 0 0 0 1
Breda Genetics srl 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

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