ClinVar Miner

Variants in gene NEBL

Minimum submission review status: Collection method:
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Gene type:
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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
0 1 221 165 93 2 441

Condition and significance breakdown #

Total conditions: 14
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Condition likely pathogenic uncertain significance likely benign benign not provided total
Primary dilated cardiomyopathy 1 145 44 29 0 219
not specified 0 50 83 37 2 160
not provided 0 50 62 44 0 155
Cardiovascular phenotype 0 8 1 9 0 18
Cardiomyopathy 0 2 0 1 0 3
Primary familial hypertrophic cardiomyopathy 0 3 0 0 0 3
Atrial fibrillation 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 1
Hypertrophic cardiomyopathy; Aborted sudden cardiac death 0 1 0 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 1 0 1
See cases 0 0 0 1 0 1
Sudden cardiac death 0 1 0 0 0 1
Sudden unexplained death 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 144 76 29 0 249
GeneDx 0 48 89 76 0 213
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 43 39 25 2 109
Ambry Genetics 0 8 1 9 0 18
Blueprint Genetics 0 6 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 5 1 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 1 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 2 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 2 0 1 0 3
Lineagen, Inc 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1

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