ClinVar Miner

Variants in gene NEBL

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
0 0 145 105 45 2 269

Condition and significance breakdown #

Total conditions: 9
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Condition uncertain significance likely benign benign not provided total
not specified 49 83 37 2 158
Primary dilated cardiomyopathy 65 37 23 0 125
not provided 44 1 0 0 45
Cardiovascular phenotype 8 1 9 0 18
Cardiomyopathy 2 0 1 0 3
Primary familial hypertrophic cardiomyopathy 3 0 0 0 3
See cases 0 0 1 0 1
Sudden cardiac death 1 0 0 0 1
Wolff-Parkinson-White pattern 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter uncertain significance likely benign benign not provided total
GeneDx 48 61 32 0 141
Invitae 64 37 23 0 124
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 42 39 24 2 107
Ambry Genetics 8 1 9 0 18
Blueprint Genetics, 6 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease,Stanford University 5 1 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 0 3
Fulgent Genetics 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 1

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