ClinVar Miner

Variants with conflicting interpretations between Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and Illumina Clinical Services Laboratory,Illumina

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
40 29 0 5 36 0 15 56

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 0 1 1 0
likely pathogenic 4 0 3 3 1
uncertain significance 3 3 0 23 13
likely benign 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001001547.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) rs33932559
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_052872.4(IL17F):c.254+1G>T rs117796773
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729
NM_139025.4(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053
NM_194248.3(OTOF):c.4023+1G>A rs186810296
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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