ClinVar Miner

Variants in gene NIPBL

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Gene type:

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
452 201 1069 725 168 50 2397

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cornelia de Lange syndrome 1 393 147 707 451 82 1 1685
not provided 85 40 252 145 86 0 588
Inborn genetic diseases 11 4 156 154 14 0 339
not specified 2 0 44 77 52 0 166
NIPBL-related disorder 8 16 41 51 5 0 121
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Sarcoma 0 0 0 0 0 8 8
Intellectual disability 0 2 2 3 0 0 7
Lung cancer 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
De Lange syndrome 2 1 1 1 0 0 5
See cases 3 0 1 1 0 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Germ cell tumor of testis 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Abnormal brain morphology 1 0 0 0 0 0 1
Brachydactyly; Global developmental delay; Abnormal facial shape; Intellectual disability 0 1 0 0 0 0 1
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital ocular coloboma 0 0 1 0 0 0 1
Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 54 0 0 0 1 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Global developmental delay 0 0 1 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Nephronophthisis 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Orofacial cleft 1 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Plagiocephaly; Seizure; Vesicoureteral reflux; Horseshoe kidney; Mild intellectual disability 0 1 0 0 0 0 1
Tetralogy of Fallot; Microcephaly; Cleft palate 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 173 27 398 431 75 0 1104
GeneDx 53 29 130 77 79 0 368
Genetic Services Laboratory, University of Chicago 175 48 53 32 42 0 350
Ambry Genetics 11 4 156 155 14 0 340
Fulgent Genetics, Fulgent Genetics 0 0 190 10 3 0 203
PreventionGenetics, part of Exact Sciences 8 16 41 59 17 0 141
CeGaT Center for Human Genetics Tuebingen 9 3 44 61 10 0 127
Genome-Nilou Lab 28 7 14 25 41 0 115
Eurofins Ntd Llc (ga) 20 1 57 11 20 0 109
Illumina Laboratory Services, Illumina 0 0 51 25 22 0 98
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 32 16 0 0 53
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 49 49
Breakthrough Genomics, Breakthrough Genomics 1 0 3 19 25 0 48
3billion 6 14 8 0 0 0 28
Athena Diagnostics 0 0 11 4 13 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 10 1 0 0 28
Revvity Omics, Revvity 2 5 19 0 0 0 26
Baylor Genetics 5 5 6 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 11 1 0 0 16
OMIM 13 0 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 4 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 10 0 0 0 0 0 10
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 6 3 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 1 7 0 0 0 9
Mendelics 4 2 1 1 1 0 9
New York Genome Center 0 2 7 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 1 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 6 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 6 0 1 0 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 0 4 1 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 2 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 1 3 0 0 5
Department of Human Genetics, Hannover Medical School 3 1 1 0 0 0 5
MVZ Martinsried, Medicover Genetics 2 1 2 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 2 1 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 1 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 4
Blueprint Genetics 0 2 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
OLLIN Analises Genomicas, OLLIN 1 0 2 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Clinical Laboratory, Akita National Hospital 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
ISCA site 1 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Biochemical Genetics Laboratory, National Taiwan University 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 1 0 0 0 0 0 1
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department of Clinical Genetics, Aarhus University Hospital 0 1 0 0 0 0 1
Department of Eugenics & Genetics, Women & Infants Hospital of Zhengzhou 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
GeNE CliniK, Regional Hospital Limbe 0 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Molecular Medicine Center, Markusovszky University Teaching Hospital 0 0 1 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Pediatric Department, Jinhua Municipal Central Hospital 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1

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