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
29 7 2 0 0 35

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SOX5 27 7 2 33
BCAT1, C12orf77, C2CD5, ETNK1, IRAG2, SOX5 1 0 0 1
BCAT1, C12orf77, SOX5 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
Institute for Human Genetics,University Hospital Essen 23 2 0 25
OMIM 5 0 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 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

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