ClinVar Miner

Variants studied for Cornelia de Lange syndrome

Included ClinVar conditions (12):
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
618 328 1390 1252 267 6 3669

Gene and significance breakdown #

Total genes and gene combinations: 27
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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
SMC1A 112 68 300 348 77 2 857
SMC3 21 44 165 219 45 1 469
HDAC8 37 40 82 109 38 0 298
RAD21 34 11 115 119 24 2 295
BRD4 7 10 10 2 0 0 27
MAU2 2 4 0 0 0 0 6
MIR6857, SMC1A 1 1 0 3 0 0 5
IQSEC2, SMC1A 0 0 4 0 0 0 4
CPLANE1, NIPBL, NUP155 1 0 1 0 0 0 2
LOC130064058, MAU2 1 1 0 0 0 0 2
ADD3, ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1 0 0 1 0 0 0 1
AFF4 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
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
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, IQSEC2, KDM5C, RIBC1, SMC1A 0 0 0 0 1 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
LOC130000992, LOC130000993, LOC130000994, MIR3610, RAD21 0 0 1 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: 146
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 285 62 855 1178 238 0 2618
Genetic Services Laboratory, University of Chicago 186 67 71 0 2 0 326
Fulgent Genetics, Fulgent Genetics 0 4 220 42 7 0 273
Illumina Laboratory Services, Illumina 2 3 145 40 59 0 249
Genome-Nilou Lab 28 7 14 25 48 0 122
Baylor Genetics 22 20 16 0 0 0 58
3billion 12 24 20 1 0 0 57
OMIM 49 0 0 0 0 0 49
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 7 14 2 0 0 44
Revvity Omics, Revvity 3 5 25 0 0 0 33
Mendelics 12 8 2 3 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 3 5 10 1 0 0 19
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 7 10 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 2 8 0 0 0 16
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 16 0 0 0 0 0 16
New York Genome Center 0 3 11 0 0 0 14
MVZ Medizinische Genetik Mainz 1 2 10 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 7 2 3 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 5 0 0 0 11
MVZ Martinsried, Medicover Genetics 2 4 5 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 8 2 1 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 0 0 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 6 3 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 3 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 0 0 0 0 9
Institute for Human Genetics, University Hospital Essen 3 5 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 0 2 4 2 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 8
Department of Human Genetics, Hannover Medical School 4 2 1 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 2 3 0 0 0 7
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 4 0 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 2 1 3 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 2 0 0 0 6
Molecular Genetics Lab, CHRU Brest 2 4 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 3 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 2 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 5 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 1 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 2 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 2 0 0 0 5
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 2 0 0 0 0 5
OLLIN Analises Genomicas, OLLIN 1 1 3 0 0 0 5
Centre for Medical Genetics, Mumbai 0 0 0 4 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 1 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 1 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 3 1 0 0 0 0 4
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 4 0 0 0 0 0 4
Variantyx, Inc. 3 1 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 1 2 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 1 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 2 0 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 0 3 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 1 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Clinical Laboratory, Akita National Hospital 2 0 0 0 0 0 2
Department of Medical Genetics, National Institute of Health 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Gharavi Laboratory, Columbia University 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 2 0 0 0 2
Pediatric Research Institute, Henan Children’s Hospital 0 1 0 0 0 1 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Biochemical Genetics Laboratory, National Taiwan University 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Bondeson Group, Uppsala University 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 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
Clinical Genetics and Genomics, Karolinska University Hospital 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 Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 0 1 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
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region 1 0 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
Molecular Genetics Laboratory, Motol Hospital 0 1 0 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
SIB Swiss Institute of Bioinformatics 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Wonkam Laboratory, Johns Hopkins University 0 1 0 0 0 0 1

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