ClinVar Miner

Variants with conflicting interpretations studied for Fanconi anemia complementation group C

Coded as:
Minimum review status of the submission for Fanconi anemia complementation group C: Collection method of the submission for Fanconi anemia complementation group C:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
418 77 0 46 19 0 3 64

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.

All conditions
Fanconi anemia complementation group C pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 35 2 0 0
likely pathogenic 35 0 3 0 0
uncertain significance 2 3 0 17 4
likely benign 0 0 17 0 11
benign 0 0 4 11 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Fanconi anemia complementation group C 418 77 0 46 19 0 3 64

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01368
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01342
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00034
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00013
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00007
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00007
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00003
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000136.3(FANCC):c.1155-1G>C rs1554829575 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.166-2A>G rs587777945
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.516A>G (p.Gln172=) rs748322179
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865

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