ClinVar Miner

Variants in gene NIPBL

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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 not provided total
392 153 655 532 163 1 1727

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cornelia de Lange syndrome 1 341 116 421 313 74 1 1200
not provided 69 29 170 117 85 0 456
Inborn genetic diseases 10 3 54 104 14 0 185
not specified 2 0 21 59 50 0 124
NIPBL-related condition 6 10 30 44 4 0 94
De Lange syndrome 1 0 7 5 0 0 13
Intellectual disability 0 1 3 3 0 0 7
See cases 3 0 1 1 0 0 5
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
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
Global developmental delay 0 0 1 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 0 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
Plagiocephaly; Seizure; Vesicoureteral reflux; Horseshoe kidney; Intellectual disability, mild 0 1 0 0 0 0 1
Tetralogy of Fallot; Microcephaly; Cleft palate 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 103
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 143 23 280 301 66 0 813
Genetic Services Laboratory, University of Chicago 175 48 53 32 42 0 350
GeneDx 37 19 76 75 79 0 286
Ambry Genetics 10 3 54 105 14 0 186
Genome-Nilou Lab 28 7 14 25 41 0 115
PreventionGenetics, part of Exact Sciences 6 10 30 52 16 0 114
Eurofins Ntd Llc (ga) 20 1 57 11 20 0 109
Illumina Laboratory Services, Illumina 0 0 57 29 22 0 108
CeGaT Center for Human Genetics Tuebingen 6 2 24 36 11 0 79
Athena Diagnostics Inc 0 0 9 1 11 0 21
Revvity Omics, Revvity 2 3 16 0 0 0 21
Baylor Genetics 5 5 6 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 2 5 1 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 8 4 3 0 15
3billion 4 9 1 0 0 0 14
OMIM 13 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 9 2 0 0 11
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
Mendelics 4 2 1 1 1 0 9
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 0 7 0 0 0 8
New York Genome Center 0 0 7 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 1 0 0 6
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 5 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 1 3 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 3 1 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Blueprint Genetics 0 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 1 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
ISCA site 1 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2
Clinical Laboratory, Akita National Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 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, Sultan Qaboos University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana 0 0 1 0 0 0 1

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