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 1 167 164 93 2 388

Condition and significance breakdown #

Total conditions: 12
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Condition likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 50 94 69 0 201
not specified 0 51 82 37 2 160
Primary dilated cardiomyopathy 1 80 12 4 0 97
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
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: 15
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 48 89 76 0 213
Invitae 0 79 76 29 0 184
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 44 38 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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1

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