ClinVar Miner

Variants studied for 12p12.1 microdeletion syndrome

Included ClinVar conditions (1):
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
31 11 4 0 0 43

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
SOX5 29 11 4 41
BCAT1, C12orf77, C2CD5, ETNK1, IRAG2, SOX5 1 0 0 1
BCAT1, C12orf77, SOX5 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Institute for Human Genetics,University Hospital Essen 23 2 0 25
OMIM 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 5
Baylor Genetics 1 0 0 1
Mendelics 0 1 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 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.