Variants studied for IMAGe 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	not provided	total
8	2	88	17	5	9	125

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	not provided	total
CDKN1C	8	2	88	17	5	9	125

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	80	17	3	0	100
GeneReviews	0	0	0	0	0	8	8
OMIM	5	0	0	0	0	0	5
Baylor Genetics	0	0	3	0	0	0	3
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	2	0	0	0	2
3billion	0	0	1	0	0	0	1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	1	0	0	0	0	0	1
Dubai Health Genomic Medicine Center, Dubai Health	1	0	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	1
ITMI	1	0	0	0	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
Pediatrics, Sichuan Provincial Hospital For Women And Children	1	0	0	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	0	1	0	1

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