ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and CSER _CC_NCGL, 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
213 23 0 11 27 0 1 39

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.

likely pathogenic uncertain significance likely benign
pathogenic 2 1 0
uncertain significance 0 0 2
likely benign 0 13 0
benign 0 12 9

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442

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