ClinVar Miner

Variants studied for Nemaline myopathy 2

Coded as:
Minimum submission review status: Collection method:
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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
318 276 1700 1281 191 1 3460

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 227 189 1358 1051 159 1 2751
NEB, RIF1 90 87 342 230 32 0 708
ARL5A, CACNB4, NEB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 274 73 1188 1213 163 0 2911
Natera, Inc. 11 6 423 105 83 0 628
Illumina Clinical Services Laboratory,Illumina 0 2 335 39 81 0 457
Counsyl 22 203 118 13 0 0 356
Baylor Genetics 3 3 38 0 0 0 44
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
Genetic Services Laboratory, University of Chicago 6 2 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 4 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 3 0 0 0 0 7
Mayo Clinic 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 1 0 3
Pediatric Department, Peking University First Hospital 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 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
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
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 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

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