ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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
782 56 0 26 15 0 2 43

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.

uncertain significance likely benign benign
pathogenic 1 0 0
likely pathogenic 1 0 0
uncertain significance 0 0 1
likely benign 10 0 6
benign 4 20 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.4(BRCA2):c.7436-4A>G rs81002904
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001234.5(CAV3):c.417C>T (p.Val139=) rs147250678
NM_002471.3(MYH6):c.3979-8del rs193922652
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_007078.3(LDB3):c.690-4A>G rs45529531
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007294.3(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.81-6T>C rs80358179
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192

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