Variants studied for Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level:
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
41	3	17	7	24	92

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CSPP1	24	1	9	2	4	40
KIAA0586	11	2	6	4	17	40
ARFGEF1, CSPP1	2	0	2	1	3	8
IFT140	3	0	0	0	0	3
IFT140, LOC105371046	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	14	2	15	6	24	61
UW Hindbrain Malformation Research Program,University of Washington	17	0	0	0	0	17
OMIM	13	0	0	0	0	13
Laboratory of Medical Genetics, INSERM	4	0	0	0	0	4
Genetic Services Laboratory, University of Chicago	2	1	0	0	0	3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	0	0	2	0	0	2
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	0	1	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.