Variants studied for Leber congenital amaurosis 12

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)

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
12	2	149	55	18	1	229

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RD3	12	2	149	55	18	1	229

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	7	0	67	47	11	0	132
Illumina Laboratory Services, Illumina	0	0	87	8	9	0	104
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	0	4	0	6
OMIM	5	0	0	0	0	0	5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	1	1	0	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	1	1	0	0	0	2
Laboratory of Genetics in Ophthalmology, Institut Imagine	2	0	0	0	0	0	2
GeneReviews	0	0	0	0	0	1	1

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