Variants studied for Usher syndrome type 1F

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
33	110	454	61	68	695

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PCDH15	33	107	449	61	66	685
LOC105378311, PCDH15	0	3	5	0	2	10

Submitter and significance breakdown #

Total submitters: 17

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Natera, Inc.	7	4	253	44	38	346
Counsyl	1	81	178	11	1	272
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	18	20	28	0	0	66
Genome-Nilou Lab	0	0	19	6	38	63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	13	13	0	0	0	26
OMIM	6	0	0	0	0	6
Mendelics	2	0	0	0	4	6
Pars Genome Lab	0	0	3	1	1	5
Laboratory of Prof. Karen Avraham, Tel Aviv University	3	0	0	0	0	3
Biochemistry Laboratory of CDMU, Chengde Medical University	0	2	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Centre de Biotechnologie de Sfax, Université de Sfax	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
GeneID Lab - Advanced Molecular Diagnostics	0	1	0	0	0	1
3billion	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.