Variants studied for Joubert syndrome 8

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
21	5	141	109	10	1	277

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ARL13B	21	5	135	109	10	1	271
ARL13B, PROS1	0	0	2	0	0	0	2
ARL13B, DHFR2	0	0	1	0	0	0	1
ARL13B, DHFR2, NSUN3	0	0	1	0	0	0	1
ARL13B, DHFR2, NSUN3, PROS1, STX19	0	0	1	0	0	0	1
ARL13B, PROS1, STX19	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	15	4	135	107	10	0	271
Fulgent Genetics, Fulgent Genetics	0	0	7	1	0	0	8
OMIM	4	0	0	0	0	0	4
Revvity Omics, Revvity	0	0	4	0	0	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	4	0	0	0	4
UW Hindbrain Malformation Research Program, University of Washington	4	0	0	0	0	0	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	1	0	2
Baylor Genetics	0	0	1	0	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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