Variants studied for Achromatopsia 7

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	not provided	total
13	5	2	1	6	2	27

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ATF6	13	5	2	1	6	2	27

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Molecular Genetics Laboratory, Institute for Ophthalmic Research	8	0	0	0	0	0	8
OMIM	6	0	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	6	0	6
Mendelics	1	0	1	1	2	0	5
Laboratory of Genetics in Ophthalmology, Institut Imagine	1	2	0	0	0	0	3
GeneReviews	0	0	0	0	0	2	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	0	0	1

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