Variants studied for Senior-Loken syndrome 4

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
11	13	274	54	33	1	382

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NPHP4	11	13	271	53	33	1	378
LOC129929213, NPHP4	0	0	3	1	0	0	4

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	6	10	203	37	0	0	256
Illumina Laboratory Services, Illumina	0	0	107	19	33	0	159
OMIM	2	0	0	0	0	0	2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	2	0	0	0	0	0	2
Ocular Genomics Institute, Massachusetts Eye and Ear	0	0	2	0	0	0	2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	1	0	0	0	2
Baylor Genetics	0	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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