Variants studied for cone-rod dystrophy 13

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
93	20	449	281	39	2	844

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RPGRIP1	92	20	448	281	39	2	842
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4	0	0	1	0	0	0	1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	87	15	402	268	37	0	809
Illumina Laboratory Services, Illumina	0	0	63	5	14	0	82
Genome-Nilou Lab	15	3	33	21	3	0	75
Fulgent Genetics, Fulgent Genetics	2	0	3	1	0	0	6
Baylor Genetics	2	0	1	0	0	0	3
3billion	2	0	1	0	0	0	3
OMIM	2	0	0	0	0	0	2
GeneReviews	0	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
UCLA Clinical Genomics Center, UCLA	0	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	1	0	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	0	1
DBGen Ocular Genomics	0	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	1	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	0	1

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