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
278 88 242 152 78 766

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cornelia de Lange syndrome 1 245 70 144 44 30 513
not provided 43 17 79 49 26 206
not specified 1 0 12 59 46 110
History of neurodevelopmental disorder 0 0 5 28 11 44
De Lange syndrome 1 0 4 3 0 8
Intellectual disability 0 1 3 3 0 7
Inborn genetic diseases 3 0 2 0 0 5
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
Ductal breast carcinoma 0 0 1 0 0 1
Nephronophthisis 0 0 1 0 0 1
Plagiocephaly; Seizures; Vesicoureteral reflux; Horseshoe kidney; Intellectual disability, mild 0 1 0 0 0 1
Tetralogy of Fallot; Microcephaly; Cleft palate 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 166 44 51 29 40 330
Invitae 68 14 39 56 25 202
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 1 56 11 20 107
Illumina Clinical Services Laboratory,Illumina 0 0 44 27 22 93
GeneDx 21 14 9 25 20 89
Ambry Genetics 3 0 7 28 11 49
PreventionGenetics, PreventionGenetics 0 0 0 9 12 21
Athena Diagnostics Inc 0 0 8 1 9 18
OMIM 13 0 0 0 0 13
Baylor Genetics 4 3 5 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 3 4 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 10 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 6 1 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 1 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 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
Diagnostic Laboratory, Strasbourg University Hospital 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 1

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