Variants studied for CFTR-related disorder

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)

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
534	400	736	166	25	1	1778

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CFTR	445	328	579	130	20	1	1440
CFTR, LOC111674472	49	44	54	10	0	0	144
CFTR, LOC111674477	7	16	42	8	2	0	69
CFTR, LOC111674463	1	0	45	12	2	0	59
CFTR, LOC111674475	21	7	13	3	1	0	44
CFTR, LOC113664106	10	5	3	1	0	0	19
CFTR, LOC113633877	1	0	0	2	0	0	3

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Natera, Inc.	489	385	566	50	14	0	1504
PreventionGenetics, part of Exact Sciences	72	18	115	108	8	0	321
Illumina Laboratory Services, Illumina	1	0	105	20	6	0	132
Genome Diagnostics Laboratory, The Hospital for Sick Children	46	16	15	3	4	0	84
CFTR-France	40	0	0	0	2	0	42
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	1	6	2	0	0	9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	5	1	0	0	0	0	6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	2	0	0	0	0	2
Department of Urology, First Affiliated Hospital of Nanjing Medical University	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genomics For Life	0	0	1	0	0	0	1

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