ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia

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
113 89 0 14 16 0 4 34

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 2 3 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 1 0 1 1
likely benign 0 0 6 0 0
benign 0 0 8 11 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227
NM_002878.3(RAD51D):c.196G>A (p.Val66Met) rs56026142
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006506.4(RASA2):c.17C>T (p.Pro6Leu) rs201352230
NM_006767.4(LZTR1):c.651+10_651+46del rs541944601
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366

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