Variants studied for Primary ciliary dyskinesia 14

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
25	36	96	10	18	179

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
CCDC39	21	29	55	7	8	116
CCDC39, TTC14	4	7	41	3	10	63

Submitter and significance breakdown #

Total submitters: 26

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	1	76	6	16	99
Fulgent Genetics, Fulgent Genetics	10	25	12	3	0	50
Revvity Omics, Revvity	5	1	3	0	0	9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	0	2	2	3	8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	2	2	0	1	7
OMIM	5	0	0	0	0	5
GeneReviews	4	0	0	0	0	4
3billion	3	1	0	0	0	4
Baylor Genetics	0	0	3	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	3	0	0	0	0	3
Biology Pathology Center, Lille University Hospital	3	0	0	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	2	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	2	1	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	1	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	1	0	2
New York Genome Center	0	0	2	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	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.