ClinVar Miner

Variants studied for Char syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 12 0 2 10 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
TFAP2B 8 3 12 2 10 27

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
GeneReviews 0 0 0 0 10 10
OMIM 7 0 0 0 0 7
Baylor Genetics 1 0 2 0 0 3
Genome-Nilou Lab 0 0 0 2 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
3billion 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Medical Genetics, American University of Beirut 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 1

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