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 total
218 58 59 4 7 341

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NIPBL 209 56 58 4 7 329
CPLANE1, NIPBL 7 2 1 0 0 10
KMT2A 1 0 0 0 0 1
TAF6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 170 46 44 0 2 262
Invitae 28 7 9 1 5 50
OMIM 13 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 12 0 0 0 0 12
Baylor Miraca Genetics Laboratories, 4 3 0 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 0 0 0 7
Fulgent Genetics 0 0 3 1 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1 0 0 0 0 1

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