Variants studied for Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 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)

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	total
11	81	230	33	2	357

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	total
RPGRIP1L	11	81	230	33	2	357

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	8	81	229	33	1	352
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	1	3
Juno Genomics, Hangzhou Juno Genomics, Inc	2	0	0	0	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	1	0	0	0	0	1

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