ClinVar Miner

Variants studied for branchiooculofacial 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
15 17 1 1 0 31

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TFAP2A 15 17 1 1 31

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Center for Human Genetics, Inc,Center for Human Genetics, Inc 6 7 0 0 13
OMIM 7 0 0 0 7
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 3 0 0 0 3
Autoinflammatory diseases unit,CHU de Montpellier 1 2 0 0 3
Baylor Genetics 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 1
Mendelics 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 1

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