Variants studied for Filippi 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
13	4	10	1	2	29

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CKAP2L	12	4	9	1	1	26
CKAP2L, NT5DC4	1	0	1	0	1	3

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	6	0	0	0	0	6
Revvity Omics, Revvity	0	1	4	0	0	5
Baylor Genetics	0	0	3	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	1	0	0	3
3billion	1	0	0	1	0	2
Fulgent Genetics, Fulgent Genetics	0	1	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Sanford Medical Genetics Laboratory, Sanford Health	1	0	1	0	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1

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