Variants studied for Irido-corneo-trabecular dysgenesis

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
9	4	152	16	36	217

Gene and significance breakdown #

Total genes and gene combinations: 15

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CYP1B1	2	0	98	6	11	117
PITX2	0	0	38	6	19	63
ELP4, PAX6	0	0	8	0	3	11
PAX6	5	2	3	0	0	10
CYP1B1, LOC128772254	0	0	3	0	2	5
PITRM1	0	0	0	1	1	2
ARHGAP35	1	0	0	0	0	1
BMP4	0	1	0	0	0	1
COL4A1	1	0	0	0	0	1
CYP1B1, LOC110599580	0	0	1	0	0	1
EPHB2	0	0	0	1	0	1
LOC106014249, PAX6	0	0	1	0	0	1
PRPF8	0	0	0	1	0	1
PTCH1	0	1	0	0	0	1
RARG	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	150	12	34	196
Paul Sabatier University EA-4555, Paul Sabatier University	0	1	0	4	0	5
Molecular Medicine, University of Pavia	2	2	0	0	0	4
Eye Genetics Research Group, Children's Medical Research Institute	3	0	0	0	0	3
Genetics Department, University Hospital of Toulouse	2	1	0	0	0	3
Mendelics	0	0	0	0	2	2
Human Developmental Genetics Laboratory, Medical College of Wisconsin	1	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	0	1
3billion, Medical Genetics	0	0	1	0	0	1
DBGen Ocular Genomics	1	0	0	0	0	1

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