ClinVar Miner

Variants with conflicting interpretations studied for Fanconi anemia, complementation group O

Coded as:
Minimum review status of the submission for Fanconi anemia, complementation group O: Y axis collection method of the submission for Fanconi anemia, complementation group O:
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 Variants with at least 2 submissions 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 kind of conflict
155 207 0 25 25 4 10 62

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 O pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 9 0 0 0 2
likely pathogenic 3 0 7 0 0 2
uncertain significance 0 4 0 17 3 0
likely benign 0 0 7 0 8 0
benign 0 0 2 8 0 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Hereditary cancer-predisposing syndrome 0 219 0 12 18 0 4 32
not specified 0 41 0 10 8 0 1 18
not provided 0 94 0 8 5 0 4 17
Breast-ovarian cancer, familial 3 0 31 0 4 1 4 0 9
Breast and Ovarian Cancer Susceptibility 0 1 0 4 1 0 0 5
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 0 28 0 3 2 0 0 5
Fanconi anemia 0 1 0 4 1 0 0 5
Fanconi anemia, complementation group O 397 22 0 3 1 0 1 5
Hereditary breast and ovarian cancer syndrome 0 18 0 1 2 0 1 4
Ovarian Neoplasms 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_058216.2(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615
NM_058216.2(RAD51C):c.1026+5_1026+7delGTA rs587781410
NM_058216.2(RAD51C):c.1027-3C>T rs587782459
NM_058216.2(RAD51C):c.1039A>T (p.Arg347Ter) rs1555605532
NM_058216.2(RAD51C):c.1057_1066delTCTGCATGTT (p.Ser353Hisfs) rs1064792966
NM_058216.2(RAD51C):c.106G>A (p.Glu36Lys) rs773998134
NM_058216.2(RAD51C):c.1128A>G (p.Leu376=) rs545024029
NM_058216.2(RAD51C):c.134A>G (p.Glu45Gly) rs587781383
NM_058216.2(RAD51C):c.145+12T>G rs377297129
NM_058216.2(RAD51C):c.146-8A>G rs201079501
NM_058216.2(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.2(RAD51C):c.189T>C (p.Ile63=) rs730881923
NM_058216.2(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.2(RAD51C):c.234A>G (p.Thr78=) rs730881929
NM_058216.2(RAD51C):c.258A>T (p.Thr86=) rs149228565
NM_058216.2(RAD51C):c.319C>T (p.Leu107=) rs752817595
NM_058216.2(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.2(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.2(RAD51C):c.404+2T>C rs730881931
NM_058216.2(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.2(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.2(RAD51C):c.453G>A (p.Val151=) rs45553636
NM_058216.2(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.2(RAD51C):c.506T>C (p.Val169Ala) rs587780256
NM_058216.2(RAD51C):c.563A>T (p.Lys188Met) rs587781680
NM_058216.2(RAD51C):c.571+16A>G rs141621051
NM_058216.2(RAD51C):c.571+4A>G rs587780257
NM_058216.2(RAD51C):c.571+5G>A rs145779113
NM_058216.2(RAD51C):c.572-?_705+?del (p.(?))
NM_058216.2(RAD51C):c.578G>A (p.Arg193Gln) rs587782332
NM_058216.2(RAD51C):c.640C>T (p.Arg214Cys) rs140804406
NM_058216.2(RAD51C):c.641G>A (p.Arg214His) rs760911964
NM_058216.2(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.2(RAD51C):c.66G>A (p.Ala22=) rs876660695
NM_058216.2(RAD51C):c.705+10A>G rs377586976
NM_058216.2(RAD51C):c.705+4T>G rs778157321
NM_058216.2(RAD51C):c.706-18T>C rs56401264
NM_058216.2(RAD51C):c.706-2A>G rs587780259
NM_058216.2(RAD51C):c.732delT (p.Ile244Metfs) rs1060502601
NM_058216.2(RAD51C):c.744T>C (p.Phe248=) rs150142859
NM_058216.2(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.2(RAD51C):c.774delT (p.Thr259Leufs) rs754367349
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.7G>A (p.Gly3Arg) rs376403182
NM_058216.2(RAD51C):c.837+4_837+7delAGTA rs727503760
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.2(RAD51C):c.870T>A (p.Ile290=) rs376402418
NM_058216.2(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_058216.2(RAD51C):c.904+5G>T rs587782702
NM_058216.2(RAD51C):c.905-2A>C rs779582317
NM_058216.2(RAD51C):c.905-2_905-1delAG rs587781995
NM_058216.2(RAD51C):c.905-3_906delCAGGG rs730881941
NM_058216.2(RAD51C):c.90G>A (p.Ala30=) rs115414895
NM_058216.2(RAD51C):c.914G>A (p.Trp305Ter) rs876659874
NM_058216.2(RAD51C):c.935G>A (p.Arg312Gln) rs779834376
NM_058216.2(RAD51C):c.93delG (p.Phe32Serfs) rs730881942
NM_058216.2(RAD51C):c.945T>C (p.Phe315=) rs201235884
NM_058216.2(RAD51C):c.956G>A (p.Arg319Gln) rs367846829
NM_058216.2(RAD51C):c.965+21A>G rs752811386
NM_058216.2(RAD51C):c.965+5G>A rs774586107
NM_058216.2(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738

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