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 total
192 270 846 62 35 1371

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NEB 79 156 575 38 22 855
NEB, RIF1 46 83 146 14 7 281
ACTA1 37 21 35 1 0 93
KBTBD13 4 2 61 6 5 77
KLHL41 9 0 15 2 1 27
TPM3 10 5 13 1 0 27
TPM2 7 2 1 0 0 10
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 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 107 35 715 49 29 935
Counsyl 22 203 118 13 0 356
OMIM 46 0 0 0 0 46
Mendelics 7 8 1 0 5 21
Genetic Services Laboratory, University of Chicago 9 3 0 0 0 12
Fulgent Genetics,Fulgent Genetics 4 2 6 0 0 12
Illumina Clinical Services Laboratory,Illumina 0 2 7 0 0 9
Institute of Human Genetics,Klinikum rechts der Isar 7 1 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 4 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 4 0 0 0 7
Baylor Genetics 2 0 4 0 0 6
GeneReviews 6 0 0 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 6 0 0 6
Broad Institute Rare Disease Group,Broad Institute 1 3 2 0 0 6
NeuroMeGen,Hospital Clinico Santiago de Compostela 2 3 0 0 0 5
Center for Genetic Medicine Research,Children's National Medical Center 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 2 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 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 1

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