Variants studied for central areolar choroidal dystrophy

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
16	4	54	9	42	123

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
PRPH2	9	1	37	7	38	91
GUCY2D	5	3	17	2	4	30
EYS	1	0	0	0	0	1
TTLL5	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	37	6	38	81
Fulgent Genetics, Fulgent Genetics	2	1	9	3	2	17
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	5	0	0	7
Genome-Nilou Lab	0	0	0	0	7	7
OMIM	5	0	0	0	0	5
Molecular Genetics Laboratory, Institute for Ophthalmic Research	3	0	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	2	0	1	0	0	3
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	1

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