Variants studied for Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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
42	3	24	2	6	76

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CSPP1	25	1	11	1	1	39
KIAA0586	11	2	10	0	4	27
ARFGEF1, CSPP1	2	0	3	1	1	6
IFT140	3	0	0	0	0	3
IFT140, LOC105371046	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	15	2	22	1	6	46
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health: University of Minnesota	1	0	0	0	0	1

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