ClinVar Miner

Variants in gene RAD50 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
758 429 2 22 32 0 2 52

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 1 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 1 2 1 30 6
likely benign 0 0 30 1 15
benign 0 0 6 15 0

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_005732.3(RAD50):c.1052-5A>T rs778261497
NM_005732.3(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.3(RAD50):c.1094G>A (p.Arg365Gln) rs146370443
NM_005732.3(RAD50):c.1174_1177delCAGA (p.Gln392Leufs) rs1554098250
NM_005732.3(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.3(RAD50):c.1216G>A (p.Gly406Arg) rs747951988
NM_005732.3(RAD50):c.1216G>C (p.Gly406Arg) rs747951988
NM_005732.3(RAD50):c.1245+2C>G rs776276760
NM_005732.3(RAD50):c.1336A>G (p.Lys446Glu) rs149217423
NM_005732.3(RAD50):c.1513A>G (p.Ile505Val) rs193921012
NM_005732.3(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.3(RAD50):c.1544A>G (p.Asp515Gly) rs145843634
NM_005732.3(RAD50):c.1605T>C (p.Arg535=) rs878854785
NM_005732.3(RAD50):c.1636-4A>G rs371320628
NM_005732.3(RAD50):c.205G>A (p.Asp69Asn) rs370769989
NM_005732.3(RAD50):c.2091C>T (p.Val697=) rs61747588
NM_005732.3(RAD50):c.2173C>T (p.Arg725Trp) rs369560280
NM_005732.3(RAD50):c.2288G>A (p.Arg763His) rs141989813
NM_005732.3(RAD50):c.2352T>C (p.Ser784=) rs534731345
NM_005732.3(RAD50):c.2454A>T (p.Gly818=) rs786201702
NM_005732.3(RAD50):c.2468G>A (p.Arg823Gln) rs572533256
NM_005732.3(RAD50):c.2472T>G (p.Thr824=) rs1358470664
NM_005732.3(RAD50):c.2524+4A>T rs202047873
NM_005732.3(RAD50):c.260G>A (p.Arg87His) rs374561375
NM_005732.3(RAD50):c.2647C>T (p.Arg883Cys) rs138749920
NM_005732.3(RAD50):c.2651G>A (p.Arg884His) rs558302979
NM_005732.3(RAD50):c.2658A>G (p.Gln886=) rs768654795
NM_005732.3(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.3(RAD50):c.2718+10T>G rs765764447
NM_005732.3(RAD50):c.280A>C (p.Ile94Leu) rs28903085
NM_005732.3(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.3(RAD50):c.2923-5dup rs2066742
NM_005732.3(RAD50):c.2970C>T (p.Cys990=) rs375264148
NM_005732.3(RAD50):c.3029_3032delCACA (p.Thr1010Argfs) rs1060501941
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_005732.3(RAD50):c.3122A>G (p.His1041Arg) rs149577978
NM_005732.3(RAD50):c.3153G>A (p.Leu1051=) rs35800931
NM_005732.3(RAD50):c.3165-8T>G rs369581851
NM_005732.3(RAD50):c.323A>G (p.Lys108Arg) rs542347773
NM_005732.3(RAD50):c.3253A>G (p.Ile1085Val) rs143189763
NM_005732.3(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.3(RAD50):c.366-4G>A rs554668304
NM_005732.3(RAD50):c.379G>A (p.Val127Ile) rs28903086
NM_005732.3(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005732.3(RAD50):c.561dupA (p.Ala188Serfs) rs876659005
NM_005732.3(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_005732.3(RAD50):c.5C>T (p.Ser2Phe) rs1554096631
NM_005732.3(RAD50):c.671G>A (p.Arg224His) rs28903088
NM_005732.3(RAD50):c.687delT (p.Ser229Argfs) rs760146707
NM_005732.3(RAD50):c.756+7delT rs377720482
NM_005732.3(RAD50):c.943G>T (p.Val315Leu) rs28903090
NM_005732.3(RAD50):c.980G>A (p.Arg327His) rs28903091

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