ClinVar Miner

Variants with conflicting interpretations between CFTR-France and 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:
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
0 225 0 9 0 0 27 36

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 9 15 2 10

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00223
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00104
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00029
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00029
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00003
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4243-7del rs878854021

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