Variants studied for Leber congenital amaurosis 14

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	7	76	2	6	104

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LRAT	7	7	76	2	6	98
ALMS1	4	0	0	0	0	4
ABCA4	2	0	0	0	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	70	2	6	78
Laboratory of Genetics in Ophthalmology, Institut Imagine	7	4	0	0	0	11
OMIM	5	0	0	0	0	5
DBGen Ocular Genomics	2	1	0	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	1	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	0	1	0	0	1
3billion	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1
Department of Medical Genetics, Erciyes University Faculty of Medicine	0	0	1	0	0	1
Chongqing Key Laboratory of Prevention and Treatment of Major Blinding Diseases, The First Affiliated Hospital of Chongqing Medical University	0	0	1	0	0	1

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