ClinVar Miner

Variants studied for congenital nemaline myopathy

Included ClinVar conditions (15):
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
447 327 2336 1459 283 1 4521

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 227 189 1358 1051 159 1 2751
NEB, RIF1 90 87 342 230 32 0 708
KLHL40 13 8 133 35 17 0 203
ACTA1 59 27 79 21 11 0 188
LMOD3 12 2 112 38 22 0 184
TPM3 11 7 132 23 6 0 174
TNNT1 7 5 69 20 6 0 102
KLHL41 12 0 52 23 10 0 97
CFL2 5 0 44 12 10 0 70
TPM2 8 2 14 4 8 0 36
TNNI3, TNNT1 2 0 0 2 1 0 5
ARL5A, CACNB4, NEB 1 0 0 0 0 0 1
DNAAF3, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 1
MVK 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 345 97 1635 1366 225 0 3668
Illumina Clinical Services Laboratory,Illumina 0 2 508 64 110 0 684
Natera, Inc. 11 6 423 105 83 0 628
Counsyl 22 203 118 13 0 0 356
Baylor Genetics 9 7 56 0 0 0 72
OMIM 58 0 0 0 0 0 58
Mendelics 7 8 1 0 3 0 19
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 6 0 0 0 11
Institute of Human Genetics, Klinikum rechts der Isar 8 2 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 4 0 0 0 0 9
GeneReviews 8 0 0 0 0 0 8
Broad Institute Rare Disease Group, Broad Institute 1 3 2 0 1 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Pediatric Department, Peking University First Hospital 5 1 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 3 0 0 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
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
NeuroMeGen,Hospital Clinico Santiago de Compostela 1 2 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 1 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 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
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1

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