Variants studied for DEGCAGS 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)

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
12	4	9	1	0	24

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	total
ZNF699	12	4	9	1	24

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	2	1	4	0	7
OMIM	7	0	0	0	7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	2	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	1	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	2
3billion	0	0	1	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	0	0	0	1
Dubai Health Genomic Medicine Center, Dubai Health	1	0	0	0	1
Institute of Human Genetics Munich, TUM University Hospital	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Revvity Omics, Revvity	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1

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