Variants studied for Joubert syndrome with renal defect

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	38	43	4	4	102

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NPHP1	10	36	43	4	4	97
LOC126806306, NPHP1	1	2	0	0	0	3
intergenic	1	0	0	0	0	1
MALL, NPHP1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	10	38	4	0	0	52
Illumina Laboratory Services, Illumina	0	0	38	4	4	46
OMIM	1	0	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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