Variants studied for Hermansky-Pudlak syndrome 3

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
30	124	70	12	27	1	255

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	not provided	total
HPS3	19	97	45	6	16	1	180
CP, HPS3	11	27	25	6	11	0	75

Submitter and significance breakdown #

Total submitters: 21

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Baylor Genetics	22	83	0	0	0	0	105
Illumina Laboratory Services, Illumina	0	0	60	10	19	0	89
Myriad Genetics, Inc.	1	34	0	0	0	0	35
Genome-Nilou Lab	0	0	1	1	13	0	15
Revvity Omics, Revvity	2	6	4	0	0	0	12
Fulgent Genetics, Fulgent Genetics	5	2	3	1	0	0	11
OMIM	7	0	0	0	0	0	7
Counsyl	0	1	0	1	1	0	3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	3	0	0	0	3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	1	0	2	0	0	0	3
GeneReviews	1	0	0	0	0	1	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	0	2
3billion	2	0	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	0	1
Suma Genomics	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	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.