Variants studied for age related macular degeneration, susceptibility to

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	risk factor	total
23	51	218	59	15	4	366

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
ERCC6	16	19	103	29	13	0	180
CFI	5	18	92	24	0	2	137
ERCC6, PGBD3	1	5	9	3	0	0	18
C9	0	6	6	1	0	1	14
ERCC6, LOC126860933	1	3	3	1	2	0	10
ERCC6, LOC130003806	0	0	5	1	0	0	6
ERCC6, LOC130003807	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Fulgent Genetics, Fulgent Genetics	23	50	114	25	0	0	212
Illumina Laboratory Services, Illumina	0	0	104	32	15	0	151
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	5	1	0	0	7
OMIM	0	0	0	0	0	4	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	1	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	0	1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi	0	0	1	0	0	0	1

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