Variants studied for Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14

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
50	32	146	54	0	1	283

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	not provided	total
CEP290	47	26	145	53	1	272
CEP290, RLIG1	2	6	1	0	0	9
CEP290, LOC129390514	1	0	0	1	0	2

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
Fulgent Genetics, Fulgent Genetics	50	31	146	54	0	281
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1

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