ClinVar Miner

Variants with conflicting interpretations between Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and Sharing Clinical Reports Project (SCRP)

Minimum review status of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): Collection method of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA):
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
0 953 0 59 21 0 8 88

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 19 5 0 0
uncertain significance 2 1 0 0 0
likely benign 0 0 4 0 6
benign 0 0 17 34 0

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr) rs80358454
NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val) rs80358477
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.3(BRCA2):c.2424A>G (p.Glu808=) rs55646808
NM_000059.3(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298
NM_000059.3(BRCA2):c.3330A>G (p.Glu1110=) rs369294255
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.441A>G (p.Gln147=) rs80358676
NM_000059.3(BRCA2):c.53G>A (p.Arg18His) rs80358762
NM_000059.3(BRCA2):c.632-3C>G rs568027879
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.750G>A (p.Val250=) rs143214959
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980
NM_000059.3(BRCA2):c.777A>G (p.Arg259=) rs431825356
NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.3(BRCA2):c.8632+1G>A rs397507997
NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=) rs587776462
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.9699_9702del rs80359775
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.5153-1G>C rs80358137
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.81-11del rs273902788
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.