ClinVar Miner

Variants in gene NEDD4L

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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 drug response not provided total
4 3 140 124 48 1 1 315

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
not provided 1 0 129 122 48 0 0 298
Periventricular nodular heterotopia 7 4 3 9 0 0 0 0 15
Intellectual disability 0 1 1 2 0 0 0 4
Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay 4 0 0 0 0 0 0 4
not specified 0 0 2 0 0 0 0 2
Normal pregnancy 0 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 0 1
diuretics response - Efficacy 0 0 0 0 0 1 0 1
hydrochlorothiazide response - Efficacy 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 0 0 124 122 45 0 0 291
OMIM 4 0 0 0 0 0 0 4
GeneDx 1 0 3 0 0 0 0 4
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire,Strasbourg University - CNRS UMR 7104 - Inserm U 964 4 0 0 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 1 1 1 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
ITMI 0 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Genetics Division,Universidade Federal de Sao Paulo 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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