ClinVar Miner

Variants studied for IRIDA syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 11 0 9 36

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
TMPRSS6 14 5 11 9 35
IL2RB, LOC130067341, TMPRSS6 1 0 0 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
Genome-Nilou Lab 0 0 0 9 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 2 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 4
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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