Variants from ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen

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	total
124	82	35	29	32	302

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
RPE65	88	57	11	18	8	182
GUCY2D	23	16	9	8	13	69
AIPL1	13	9	15	3	11	51

Condition and significance breakdown #

Total conditions: 3

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RPE65-related recessive retinopathy	88	57	11	18	8	182
GUCY2D-related recessive retinopathy	23	16	9	8	13	69
AIPL1-related retinopathy	13	9	15	3	11	51

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