ClinVar Miner

Variants in gene NEB

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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
244 213 1487 1455 217 1 3154

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nemaline myopathy 2 227 189 1358 1051 159 1 2751
not specified 0 0 40 401 153 0 500
not provided 30 17 208 190 51 0 486
Nemaline myopathy 11 12 0 0 0 0 23
Inborn genetic diseases 1 2 9 2 0 0 14
Nemaline Myopathy, Recessive 0 0 9 0 1 0 10
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 0 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 0 1 0 0 0 1
Non-immune hydrops fetalis 0 1 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 199 55 976 1070 139 0 2439
Natera, Inc. 7 2 356 93 69 0 527
GeneDx 17 13 51 335 94 0 510
Illumina Clinical Services Laboratory,Illumina 0 1 267 37 65 0 370
Counsyl 15 131 68 6 0 0 220
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 11 1 118 9 57 0 196
PreventionGenetics, PreventionGenetics 0 0 0 78 111 0 189
Genetic Services Laboratory, University of Chicago 5 2 14 48 6 0 75
Athena Diagnostics Inc 1 1 16 12 44 0 74
Integrated Genetics/Laboratory Corporation of America 11 12 6 1 40 0 70
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 11 32 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 31 8 0 0 42
Baylor Genetics 3 2 27 0 0 0 32
Ambry Genetics 1 2 9 2 0 0 14
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 9 0 0 0 9
Fulgent Genetics,Fulgent Genetics 2 1 5 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 1 2 0 7
Mendelics 2 3 0 0 2 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 4 1 1 0 7
OMIM 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 5
Broad Institute Rare Disease Group, Broad Institute 0 3 1 0 0 0 4
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 0 2
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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1 0 2
Claritas Genomics 0 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 0 1

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