ClinVar Miner

Variants studied for Cornelia de Lange syndrome

Included ClinVar conditions (12):
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 not provided total
529 250 934 905 250 6 2726

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NIPBL 342 116 428 318 74 1 1211
SMC1A 101 61 243 290 75 2 731
SMC3 14 36 121 142 42 1 331
HDAC8 30 28 54 76 38 0 221
RAD21 30 6 74 76 21 2 201
BRD4 5 3 7 0 0 0 14
IQSEC2, SMC1A 0 0 4 0 0 0 4
MIR6857, SMC1A 0 0 0 3 0 0 3
ADD3, ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1 0 0 1 0 0 0 1
ALAS2, APEX2, FAM120C, FGD1, GNL3L, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MIR98, MIRLET7F2, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSR2, WNK3 1 0 0 0 0 0 1
CPLANE1, NIPBL, NUP155 1 0 0 0 0 0 1
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 0 1
EIF3H, RAD21, UTP23 0 0 1 0 0 0 1
HDAC8, LOC130068439, PHKA1 1 0 0 0 0 0 1
HSD17B10, HUWE1, RIBC1, SMC1A 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

Submitter and significance breakdown #

Total submitters: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 230 54 610 823 218 0 1935
Genetic Services Laboratory, University of Chicago 186 67 71 0 2 0 326
Illumina Laboratory Services, Illumina 2 3 154 57 62 0 278
Genome-Nilou Lab 28 7 14 25 48 0 122
Fulgent Genetics, Fulgent Genetics 0 1 17 35 7 0 60
Baylor Genetics 21 20 16 0 0 0 57
OMIM 49 0 0 0 0 0 49
Revvity Omics, Revvity 3 3 20 0 0 0 26
3billion 10 13 3 0 0 0 26
Mendelics 12 8 2 3 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 5 8 2 0 0 25
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 16 0 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 2 8 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 1 4 9 1 0 0 15
New York Genome Center 0 0 9 0 0 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 Goettingen 0 2 3 2 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 3 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 2 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 2 3 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 2 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 4 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 1 0 0 0 6
Molecular Genetics Lab, CHRU Brest 2 4 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 1 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 1 1 3 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 5 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 3 0 0 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 1 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 2 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 1 1 0 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 2 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 3 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
Clinical Laboratory, Akita National Hospital 2 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 1 0 0 0 2
Pediatric Research Institute, Henan Children’s Hospital 0 1 0 0 0 1 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University 1 0 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Bondeson Group, Uppsala University 0 1 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 1
Department of Eugenics & Genetics, Women & Infants Hospital of Zhengzhou 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 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
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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