Variants studied for Joubert syndrome 10

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	total
9	5	4	1	2	21

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	total
OFD1	8	5	3	1	2	19
CC2D2A	1	0	0	0	0	1
LOC126863212, OFD1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
UW Hindbrain Malformation Research Program, University of Washington	4	0	0	0	0	4
OMIM	3	0	0	0	0	3
Baylor Genetics	0	1	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	1	0	0	0	1
Medical Genetics Laboratory, West China Hospital, Sichuan University	1	0	0	0	0	1
3billion	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Department of Pediatrics, National Cheng-Kung University Hospital	0	1	0	0	0	1

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