ClinVar Miner

Variants with conflicting interpretations between CFTR-France and Counsyl

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
15 52 0 45 1 0 11 57

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
pathogenic 43 11 0
benign 0 1 2

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.165-3C>T rs200337193
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.3(CFTR):c.1680-883A>G rs1554388867
NM_000492.3(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.274-1G>C rs121908792
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.3(CFTR):c.2T>C (p.Met1Thr) rs397508476
NM_000492.3(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.3(CFTR):c.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.1517T>C rs397508224
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.4(CFTR):c.2989-1G>A rs397508470
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.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532

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