ClinVar Miner

Variants studied for Cornelia de Lange syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
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
409 160 717 452 82 2 1726

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NIPBL 394 148 707 452 82 1 1688
BRD4 1 0 7 0 0 0 8
MAU2 2 4 0 0 0 0 6
SMC3 0 4 1 0 0 0 5
HDAC8 3 0 0 0 0 0 3
SMC1A 1 1 0 0 0 1 3
CPLANE1, NIPBL, NUP155 1 0 1 0 0 0 2
LOC130064058, MAU2 1 1 0 0 0 0 2
RAD21 1 1 0 0 0 0 2
ATR 1 0 0 0 0 0 1
CPLANE1, NIPBL 1 0 0 0 0 0 1
CPLANE1, NIPBL, SLC1A3 0 0 1 0 0 0 1
KMT2A 1 0 0 0 0 0 1
LOC129993812, NIPBL 1 0 0 0 0 0 1
TAF6 1 0 0 0 0 0 1
TRMT61A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 107
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 176 27 400 414 75 0 1092
Genetic Services Laboratory, University of Chicago 170 46 44 0 2 0 262
Fulgent Genetics, Fulgent Genetics 0 0 190 10 3 0 203
Genome-Nilou Lab 28 7 14 25 41 0 115
Illumina Laboratory Services, Illumina 0 2 51 25 22 0 100
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 12 1 0 0 30
3billion 6 14 8 0 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 10 0 0 0 14
OMIM 13 0 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 12 0 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 1 8 0 0 0 11
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 6 3 0 0 0 0 9
Mendelics 5 2 1 1 0 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 1 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 4 0 0 0 8
Institute for Human Genetics, University Hospital Essen 3 5 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 6 0 1 0 0 0 7
MVZ Martinsried, Medicover Genetics 2 1 4 0 0 0 7
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
Department of Human Genetics, Hannover Medical School 3 1 1 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 1 2 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 4
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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 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
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
Department of Medical Genetics, National Institute of Health 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 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, Molecular Genetics and Genomics, ARUP Laboratories 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
Breakthrough Genomics, Breakthrough Genomics 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 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 de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 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, 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 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 - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 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 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 de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 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 Medicine Center, Markusovszky University Teaching Hospital 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
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
Wonkam Laboratory, Johns Hopkins University 0 1 0 0 0 0 1

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