ClinVar Miner

Variants with conflicting interpretations between CFTR-France and Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
58 100 0 12 0 0 11 23

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

likely pathogenic uncertain significance likely benign benign
pathogenic 10 7 2 2
benign 0 0 2 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.165-3C>T rs200337193
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) rs193922504
NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079

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