ClinVar Miner

Variants with conflicting interpretations between Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and GeneReviews

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center:
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
5 0 3 10 0 0 5 18

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 3
likely pathogenic 10
uncertain significance 5

All variants with conflicting interpretations #

Total variants: 18
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NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063

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