ClinVar Miner

Variants studied for Ohdo syndrome and variants

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
24 6 16 0 0 46

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MED12 4 3 11 18
DUSP29, KAT6B 10 2 3 15
KAT6B 10 1 2 13

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 10 0 0 10
GeneReviews 8 0 0 8
Fulgent Genetics,Fulgent Genetics 1 0 3 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 4
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 3
UCLA Clinical Genomics Center, UCLA 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 2
Baylor Genetics 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 1

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