ClinVar Miner

Variants studied for Cornelia de Lange syndrome 1

Included ClinVar conditions (2):
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
259 75 168 62 35 1 579

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NIPBL 246 70 148 47 30 0 520
CPLANE1, NIPBL 9 2 15 2 2 1 31
SMC1A 0 0 2 10 1 0 13
SMC3 0 3 3 3 2 0 11
HDAC8 2 0 0 0 0 0 2
KMT2A 1 0 0 0 0 0 1
TAF6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetic Services Laboratory, University of Chicago 171 46 44 0 2 0 263
Invitae 71 14 39 19 20 0 163
Illumina Clinical Services Laboratory,Illumina 0 1 62 42 25 0 130
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 3 5 0 0 0 12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 12 0 0 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 4 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 1 6 0 0 0 7
Mendelics 1 1 1 1 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 1 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 0 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1 0 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 0 0 1

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