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)
		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
6	1	40	12	5	9	69

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	6	1	40	12	5	9	69

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	35	12	3	0	50
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
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	0	0	0	1
ITMI	1	0	0	0	0	0	1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	1	0	0	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	0	1	0	1
New York Genome Center	0	0	1	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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1

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