Variants studied for Bronchiectasis with or without elevated sweat chloride 1

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
284	141	35	17	35	509

Gene and significance breakdown #

Total genes and gene combinations: 9

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CFTR	222	118	9	0	0	349
SCNN1B	7	1	25	11	34	75
CFTR, LOC111674472	27	14	1	0	0	42
CFTR, LOC111674475	17	2	0	0	0	19
CFTR, LOC111674477	5	5	0	0	0	10
CFTR, LOC113664106	6	1	0	0	0	7
LTBR, SCNN1A	0	0	0	3	0	3
LOC130007233, SCNN1A, TNFRSF1A	0	0	0	2	0	2
SCNN1A, TNFRSF1A	0	0	0	1	1	2

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	277	138	10	0	0	425
Illumina Laboratory Services, Illumina	0	0	19	17	34	70
OMIM	7	0	0	0	0	7
Johns Hopkins Genomics, Johns Hopkins University	0	0	3	0	1	4
Institute of Human Genetics, University of Leipzig Medical Center	1	2	0	0	0	3
Genome-Nilou Lab	0	0	0	0	2	2
Mendelics	0	0	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
DASA	0	1	0	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.