Variants studied for Senior-Loken syndrome 6

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
56	35	245	66	24	1	419

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
CEP290	53	29	238	65	24	1	402
CEP290, RLIG1	2	6	6	0	0	0	14
CEP290, LOC129390514	1	0	1	1	0	0	3

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	50	31	146	54	0	0	281
Illumina Laboratory Services, Illumina	0	0	100	12	18	0	130
New York Genome Center	1	1	19	0	0	0	21
Genome-Nilou Lab	0	0	10	0	6	0	16
Baylor Genetics	2	0	1	0	0	0	3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	3	0	0	0	0	0	3
Suma Genomics	2	0	1	0	0	0	3
OMIM	1	0	0	0	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
MVZ Medizinische Genetik Mainz	1	0	0	0	0	0	1

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