Variants studied for Char 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	not provided	total
8	3	18	3	4	10	37

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	benign	not provided	total
TFAP2B	8	3	18	3	4	10	37

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	14	3	2	0	18
GeneReviews	0	0	0	0	0	10	10
OMIM	7	0	0	0	0	0	7
Baylor Genetics	1	0	2	0	0	0	3
Genome-Nilou Lab	0	0	0	0	2	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	1	0	0	0	0	1
Embryology Laboratory, Victor Chang Cardiac Research Institute	1	0	0	0	0	0	1
Wangler Lab, Baylor College of Medicine	0	0	1	0	0	0	1
Medical Genetics, American University of Beirut	1	0	0	0	0	0	1
3billion	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	0	0	0	0	1

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