ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and University of Washington Department of Laboratory Medicine, University of Washington

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
135 9 0 7 4 1 3 15

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 risk factor
pathogenic 0 2 0 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 0 3 0 0 1
likely benign 0 0 1 0 0
benign 0 0 3 1 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258

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