Variants with conflicting interpretations "pathogenic" from CFTR-France and "likely pathogenic" from Invitae

Minimum review status of the submission from CFTR-France:		Collection method of the submission from CFTR-France:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)	rs397508467	0.00001
NM_000492.4(CFTR):c.2658-1G>C	rs397508416
NM_000492.4(CFTR):c.2908+1G>A	rs1060503164
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)	rs397508573
NM_000492.4(CFTR):c.3874-1G>A	rs397508624
NM_000492.4(CFTR):c.454A>G (p.Met152Val)	rs397508721

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.