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
178 254 867 219 157 1644

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 73 147 589 144 107 1046
NEB, RIF1 41 81 149 39 22 319
KBTBD13 4 2 66 21 14 106
ACTA1 34 18 35 4 4 94
KLHL41 9 0 14 8 9 40
TPM3 10 3 13 3 1 28
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 107 35 742 206 156 1246
Counsyl 20 201 117 13 0 351
OMIM 46 0 0 0 0 46
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 4 0 0 7
Baylor Miraca Genetics Laboratories, 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
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
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 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
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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