Variants studied for anterior segment dysgenesis 3

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
13	2	31	2	2	50

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FOXC1	10	2	30	2	1	45
FOXC1, LOC129995601	2	0	1	0	0	3
FOXC1, FOXF2, FOXQ1, GMDS	1	0	0	0	0	1
FOXC1, LOC129995600	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	0	0	25	2	0	27
OMIM	7	0	0	0	0	7
3billion	0	0	3	0	0	3
Institute of Medical Molecular Genetics, University of Zurich	1	0	1	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	1
Mendelics	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	1	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	0	1	1
Moosajee Lab, UCL Institute of Ophthalmology	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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