ClinVar Miner

Variants with conflicting interpretations studied for Fanconi anemia complementation group I

Coded as:
Minimum review status of the submission for Fanconi anemia complementation group I: Collection method of the submission for Fanconi anemia complementation group I:
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
330 59 0 21 4 0 1 26

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 I pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 0 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 0 1 0 3 1
likely benign 0 0 3 0 11
benign 0 0 1 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 I 330 59 0 21 4 0 1 26

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056

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