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
15 4 15 0 0 34

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 1 10 15
DUPD1, KAT6B 8 2 3 13
KAT6B 3 1 2 6

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 9 0 0 9
GeneReviews 5 0 0 5
Fulgent Genetics 1 0 3 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 3
UCLA Clinical Genomics Center, UCLA 0 2 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 2 2
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,Klinikum rechts der Isar 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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

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