Variants studied for Usmani-Riazuddin syndrome, autosomal dominant

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
4	3	11	0	0	18

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
AP1G1	4	3	11	18

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	3	0	0	3
3billion	1	0	1	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	1	1	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	2
University of Washington Department of Laboratory Medicine, University of Washington	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	0	1

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