Variants studied for branchiooculofacial syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
18	22	9	13	1	60

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TFAP2A	8	9	6	8	1	31
LOC121740638, TFAP2A	9	12	3	5	0	27
EYA1	1	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 28

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	0	0	4	11	0	15
Center for Human Genetics, Inc, Center for Human Genetics, Inc	6	7	0	0	0	13
OMIM	7	0	0	0	0	7
Revvity Omics, Revvity	0	1	3	0	0	4
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	3	0	0	0	0	3
Autoinflammatory diseases unit, CHU de Montpellier	1	2	0	0	0	3
Baylor Genetics	0	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	1	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	1	1	0	0	0	2
Yale Center for Mendelian Genomics, Yale University	1	1	0	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	1
Mendelics	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Genetics Department, University Hospital of Toulouse	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	1	0	0	0	0	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	1	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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