ClinVar Miner

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

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
17 11 0 20 0 3 16 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.

pathogenic benign affects risk factor
likely pathogenic 19 0 0 0
uncertain significance 16 0 1 2
likely benign 0 1 0 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000150.2(FUT6):c.739G>A (p.Glu247Lys) rs17855739
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) rs201835496
NM_173170.1(IL36RN):c.28C>T (p.Arg10Ter) rs397514630
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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