Variants from ClinGen X-linked Inherited Retinal Disease 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
148	70	42	30	67	357

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
RPGR	114	45	20	19	58	256
CDKL5, RS1	19	16	7	4	6	52
RS1	12	8	15	6	2	43
LOC130068098, RPGR	3	1	0	1	1	6

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RPGR-related retinopathy	117	46	20	20	59	262
Juvenile retinoschisis	31	24	22	10	8	95

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