ClinVar Miner

Variants studied for blepharophimosis - intellectual disability syndrome, SBBYS type

Included ClinVar conditions (2):
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
13 3 5 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DUPD1, KAT6B 9 2 3 14
KAT6B 4 1 2 7

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 6 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 4
GeneReviews 2 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 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,Klinikum rechts der Isar 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 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

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