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
172 191 1203 944 216 1 2365

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nemaline myopathy 2 148 164 1061 454 155 1 1858
not specified 0 0 40 401 153 0 500
not provided 30 17 197 186 51 0 472
Nemaline myopathy 9 11 0 0 0 0 20
Inborn genetic diseases 1 2 8 2 0 0 13
Nemaline Myopathy, Recessive 0 0 9 0 1 0 10
Nemaline myopathy 2, autosomal recessive 5 2 0 0 0 0 7
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 0 1
Congenital muscular dystrophy; Muscle weakness; Neurodevelopmental delay 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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 131 28 814 557 139 0 1669
GeneDx 17 13 51 335 94 0 510
Illumina Clinical Services Laboratory,Illumina 0 1 265 37 65 0 368
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
Integrated Genetics/Laboratory Corporation of America 9 11 6 1 40 0 67
Athena Diagnostics Inc 1 1 12 11 41 0 66
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 2 11 32 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 31 5 0 0 39
Ambry Genetics 1 2 8 2 0 0 13
Fulgent Genetics,Fulgent Genetics 2 1 5 0 0 0 8
Division of Genomic Diagnostics,The 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 Genetic Testing 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
Broad Institute Rare Disease Group,Broad Institute 0 3 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 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
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
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
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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