Variants studied for IRIDA 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	total
15	5	14	0	9	39

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
TMPRSS6	14	5	13	9	37
IL2RB, LOC130067341, TMPRSS6	1	0	0	0	1
TOX	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	13	0	0	0	13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	2	3	4	0	9
Genome-Nilou Lab	0	0	0	9	9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	5	0	5
Revvity Omics, Revvity	0	0	3	0	3
MGZ Medical Genetics Center	0	1	1	0	2
Fulgent Genetics, Fulgent Genetics	0	1	0	1	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	1

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