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
234 71 168 103 55 583

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 1 206 56 60 4 7 328
not provided 36 15 70 4 7 132
not specified 0 0 11 60 47 110
Cornelia de Lange Syndrome 0 0 27 28 2 57
History of neurodevelopmental disorder 0 0 5 30 9 44
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: 34
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 1 56 11 20 107
GeneDx 19 14 9 22 11 75
Illumina Clinical Services Laboratory,Illumina 0 0 27 28 2 57
Invitae 27 7 9 1 5 49
Ambry Genetics 1 0 7 30 9 47
PreventionGenetics 0 0 0 9 12 21
OMIM 13 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 10 0 0 0 0 10
Athena Diagnostics Inc 0 0 4 1 4 9
Baylor Miraca Genetics Laboratories, 4 3 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 5
Fulgent Genetics 0 0 3 1 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 0 0 0 3
ISCA site 1 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 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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