Variants studied for congenital primary aphakia

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
22	10	159	87	14	1	287

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
FOXE3, LINC01389	22	10	158	87	14	1	286
CMPK1, FOXE3, STIL	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	14	3	159	87	14	0	277
Human Developmental Genetics Laboratory, Medical College of Wisconsin	9	3	0	0	0	0	12
OMIM	3	0	0	0	0	0	3
Genetics Department, University Hospital of Toulouse	0	2	0	0	0	0	2
3billion	1	1	0	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	0	1	0	1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	0	0	0	0	1

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