Variants studied for Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation

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
139	45	0	0	0	1	184

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	not provided	total
CFTR	108	34	1	142
CFTR, LOC111674472	18	7	0	25
CFTR, LOC111674475	9	0	0	9
CFTR, LOC111674477	1	3	0	4
CFTR, LOC113664106	3	1	0	4

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	not provided	total
Baylor Genetics	138	43	0	181
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	1	0	3
Suma Genomics	2	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	1	1

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