ClinVar Miner

Variants studied for Dias-Logan syndrome

Included ClinVar conditions (4):
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
23 12 24 0 1 59

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
BCL11A 23 12 23 1 58
CIC, PAFAH1B3 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 6 0 0 0 6
Revvity Omics, Revvity 0 0 6 0 6
Baylor Genetics 2 1 2 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 2
MGZ Medical Genetics Center 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 2
New York Genome Center 1 0 1 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Mendelics 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.