Variants studied for Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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
11	5	12	1	9	38

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	total
GLI2	11	5	12	1	9	38

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	9	9
Institute of Human Genetics, University of Leipzig Medical Center	2	1	3	0	0	6
OMIM	4	0	0	0	0	4
Baylor Genetics	2	0	2	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	0	1	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	1	0	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	0	1	0	1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	1

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