ClinVar Miner

Variants studied for Nemaline myopathy 2

Coded as:
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
217 247 1338 558 186 1 2369

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEB 148 164 1061 454 155 1 1858
NEB, RIF1 68 83 277 104 31 0 510
ARL5A, CACNB4, NEB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 184 37 984 514 163 0 1882
Illumina Clinical Services Laboratory,Illumina 0 2 332 39 81 0 454
Counsyl 22 203 118 13 0 0 356
Mendelics 6 4 1 0 2 0 13
Fulgent Genetics,Fulgent Genetics 4 2 6 0 0 0 12
OMIM 11 0 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 4 0 0 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 6 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 6 0 0 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 1 3 2 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 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
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
GeneReviews 1 0 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: 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

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