Variants studied for Age related macular degeneration 1

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
1	0	343	74	85	477

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
HMCN1	1	340	70	85	470
HMCN1, LOC129388665	0	1	3	0	4
HMCN1, LOC126805953	0	2	0	0	2
CFHR3	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	264	66	59	389
Genome-Nilou Lab	0	147	46	81	274
Fulgent Genetics, Fulgent Genetics	0	1	6	0	7
Mendelics	0	1	0	3	4
OMIM	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	0	0	1

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