Variants studied for cone dystrophy 4

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
22	7	65	11	10	1	111

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
PDE6C	22	7	65	11	10	1	111

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	1	59	9	9	0	78
OMIM	14	0	0	0	0	0	14
3billion	5	0	1	0	0	0	6
Fulgent Genetics, Fulgent Genetics	0	1	2	0	0	0	3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	2	1	0	0	0	0	3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	2	1	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	1	0	0	0	3
MGZ Medical Genetics Center	0	0	2	0	0	0	2
Mendelics	1	0	0	0	1	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	0	0	0	1
UCLA Clinical Genomics Center, UCLA	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center	0	0	1	0	0	0	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	1	0	0	0	0	0	1

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