Variants studied for Joubert syndrome 15

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
13	5	228	113	24	372

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
CEP41	13	5	228	113	24	372

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	7	3	137	101	8	256
Illumina Laboratory Services, Illumina	0	0	98	13	16	127
OMIM	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	4	0	0	4
Baylor Genetics	1	0	2	0	0	3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	0	2
Joe DiMaggio Children's Hospital, Memorial Healthcare System	2	0	0	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1

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