ClinVar Miner

Variants with conflicting interpretations studied for Nijmegen breakage syndrome-like disorder

Coded as:
Minimum review status of the submission for Nijmegen breakage syndrome-like disorder: Y axis collection method of the submission for Nijmegen breakage syndrome-like disorder:
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
8 45 1 16 10 0 0 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
Nijmegen breakage syndrome-like disorder pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
likely pathogenic 7 0 0 0
uncertain significance 0 0 9 3
likely benign 0 0 1 6
benign 0 0 3 0

Condition to condition summary #

Total conditions: 5
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 42 0 15 9 0 0 24
not specified 0 10 0 6 2 0 0 8
not provided 0 22 0 2 1 0 0 3
Familial cancer of breast 0 0 1 1 0 0 0 2
Nijmegen breakage syndrome-like disorder 74 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
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HGVS dbSNP
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931
NM_005732.4(RAD50):c.3165-8T>G rs369581851
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091

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