ClinVar Miner

Variants in gene NIPBL

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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
251 77 200 147 79 686

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cornelia de Lange syndrome 1 222 62 108 37 30 441
not provided 39 15 77 48 26 199
not specified 0 0 11 60 47 110
History of neurodevelopmental disorder 0 0 5 28 11 44
Cornelia de Lange Syndrome 0 0 3 3 0 6
Inborn genetic diseases 1 0 2 0 0 3
See cases 2 0 0 0 0 2
Brachydactyly; Global developmental delay; Abnormal facial shape; Intellectual disability 0 1 0 0 0 1
Cryptorchidism; Pulmonary hypoplasia; Single umbilical artery; Hypospadias, penile; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Intrauterine growth retardation; Right ventricular hypertrophy 0 1 0 0 0 1
De Lange syndrome 1 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 1
Tetralogy of Fallot; Microcephaly; Cleft palate 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 164 44 51 30 41 330
Invitae 43 9 19 53 25 149
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 1 56 11 20 107
Illumina Clinical Services Laboratory,Illumina 0 0 42 27 22 91
GeneDx 21 14 9 25 20 89
Ambry Genetics 1 0 7 28 11 47
PreventionGenetics,PreventionGenetics 0 0 0 9 12 21
Athena Diagnostics Inc 0 0 7 1 7 15
OMIM 13 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 10 0 0 0 0 10
Baylor Genetics 4 3 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 5 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 5 5
Mendelics 1 1 1 1 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 1 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 2
ISCA site 1 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1 0 0 0 0 1

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