ClinVar Miner

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

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
18 17 0 3 18 0 8 29

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 benign
pathogenic 1 0 0 0
likely pathogenic 0 5 1 2
uncertain significance 0 0 1 17
likely benign 0 0 0 2

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767

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