Variants studied for cone-rod dystrophy 3

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
54	32	33	1	22	2	135

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	not provided	total
ABCA4	51	32	26	1	20	2	123
ABCA4, LOC126805793	3	0	4	0	2	0	9
USH2A	0	0	2	0	0	0	2
ABCA4, LOC126805794	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	25	10	23	0	5	0	63
Genome-Nilou Lab	0	0	0	0	17	0	17
OMIM	14	0	0	0	0	0	14
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	5	6	1	0	0	0	12
Institute of Human Genetics, University of Leipzig Medical Center	6	1	2	0	0	0	9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	4	1	0	1	0	0	6
Genetics and Molecular Pathology, SA Pathology	2	1	3	0	0	0	6
Institute of Medical Molecular Genetics, University of Zurich	0	4	0	0	0	0	4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	1	2	0	0	0	4
Baylor Genetics	1	1	1	0	0	0	3
Division of Human Genetics, Children's Hospital of Philadelphia	3	0	0	0	0	0	3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	3	0	0	0	0	0	3
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	2	0	0	0	0	2
Moosajee Lab, UCL Institute of Ophthalmology	0	1	1	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	1	0	0	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	0	0	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	1	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	0	1
The Cell Therapy Center, The University of Jordan	1	0	0	0	0	0	1
3billion	0	1	0	0	0	0	1
DBGen Ocular Genomics	0	1	0	0	0	0	1

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