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 total
63 161 712 525 191 1374

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nemaline myopathy 2 40 139 425 144 107 844
not specified 0 0 39 405 153 495
not provided 25 15 177 5 43 263
Nemaline Myopathy, Recessive 0 0 164 35 12 211
Inborn genetic diseases 1 2 8 2 0 13
Nemaline myopathy 6 5 0 0 0 11
Nemaline myopathy 2, autosomal recessive 5 2 0 0 0 7
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 0 1 0 0 1
Non-immune hydrops fetalis 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 6 357 138 106 629
GeneDx 15 12 51 301 93 472
Counsyl 14 129 68 6 0 217
Illumina Clinical Services Laboratory,Illumina 0 1 167 35 12 215
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 11 1 118 9 57 196
PreventionGenetics 0 0 0 78 111 189
Genetic Services Laboratory, University of Chicago 5 2 14 48 6 75
Integrated Genetics/Laboratory Corporation of America 6 5 3 0 34 48
Athena Diagnostics Inc 0 1 12 13 19 45
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 11 32 45
Ambry Genetics 1 2 8 2 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 12 0 0 13
Fulgent Genetics 2 1 5 0 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 1 2 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 4 1 1 7
OMIM 6 0 0 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Claritas Genomics 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 1

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