Variants studied for fried 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
13	4	1	0	0	1	18

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	not provided	total
AP1S2	13	3	1	1	17
CUL4B	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	not provided	total
OMIM	6	0	0	0	6
Genetic Services Laboratory, University of Chicago	2	1	0	0	3
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	1
Neurogenetics Research Program, University of Adelaide	1	0	0	0	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	1	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	1
New York Genome Center	1	0	0	0	1
3billion, Medical Genetics	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	1

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