ClinVar Miner

Variants studied for Cornelia de Lange syndrome 5

Included ClinVar conditions (1):
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 total
37 40 82 109 38 298

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HDAC8 35 40 82 109 38 296
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 1
HDAC8, LOC130068439, PHKA1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 13 6 61 107 38 225
Baylor Genetics 5 4 3 0 0 12
Genetic Services Laboratory, University of Chicago 3 2 3 0 0 8
3billion 1 3 1 1 0 6
OMIM 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 3
MVZ Martinsried, Medicover Genetics 0 3 0 0 0 3
Mendelics 2 0 1 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 3
Revvity Omics, Revvity 1 0 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1

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