ClinVar Miner

Variants in gene KMT2C with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
1376 125 0 56 18 0 6 76

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 4 0 1 1
likely pathogenic 4 0 2 2 2
uncertain significance 0 2 0 14 6
likely benign 1 2 14 0 52
benign 1 2 6 52 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.7443-6T>A rs73728767 0.02825
NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=) rs117187677 0.00662
NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp) rs138845109 0.00321
NM_170606.3(KMT2C):c.10763C>T (p.Ser3588Leu) rs148585727 0.00295
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala) rs142070663 0.00249
NM_170606.3(KMT2C):c.6275A>T (p.Asp2092Val) rs140719911 0.00247
NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro) rs115580901 0.00245
NM_170606.3(KMT2C):c.14022A>T (p.Ile4674=) rs143292008 0.00238
NM_170606.3(KMT2C):c.2016A>T (p.Glu672Asp) rs114419085 0.00230
NM_170606.3(KMT2C):c.6073T>A (p.Ser2025Thr) rs141338021 0.00208
NM_170606.3(KMT2C):c.12570C>T (p.Ser4190=) rs149872298 0.00178
NM_170606.3(KMT2C):c.8943T>C (p.His2981=) rs150519030 0.00160
NM_170606.3(KMT2C):c.5631C>G (p.Pro1877=) rs149026515 0.00137
NM_170606.3(KMT2C):c.8880G>A (p.Pro2960=) rs138942112 0.00136
NM_170606.3(KMT2C):c.816C>T (p.Asn272=) rs143544942 0.00109
NM_170606.3(KMT2C):c.5532T>C (p.Asp1844=) rs151322246 0.00098
NM_170606.3(KMT2C):c.9245C>T (p.Pro3082Leu) rs61730545 0.00070
NM_170606.3(KMT2C):c.10299G>A (p.Gln3433=) rs139153777 0.00056
NM_170606.3(KMT2C):c.7881A>G (p.Gln2627=) rs143147669 0.00048
NM_170606.3(KMT2C):c.8488A>C (p.Asn2830His) rs147851738 0.00048
NM_170606.3(KMT2C):c.4272C>T (p.His1424=) rs200156200 0.00046
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_170606.3(KMT2C):c.10723A>G (p.Thr3575Ala) rs142997680 0.00035
NM_170606.3(KMT2C):c.7829G>A (p.Arg2610Gln) rs139770288 0.00034
NM_170606.3(KMT2C):c.12239T>C (p.Ile4080Thr) rs150192787 0.00031
NM_170606.3(KMT2C):c.2238G>A (p.Glu746=) rs138565768 0.00029
NM_170606.3(KMT2C):c.13023G>A (p.Gly4341=) rs142711314 0.00028
NM_170606.3(KMT2C):c.10403C>T (p.Pro3468Leu) rs565114967 0.00025
NM_170606.3(KMT2C):c.1299+15T>G rs180949226 0.00022
NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=) rs149554388 0.00021
NM_170606.3(KMT2C):c.10395T>G (p.Pro3465=) rs146083360 0.00013
NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg) rs201637035 0.00011
NM_170606.3(KMT2C):c.12433C>T (p.Arg4145Cys) rs201100798 0.00009
NM_170606.3(KMT2C):c.6910A>G (p.Met2304Val) rs754015217 0.00009
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_170606.3(KMT2C):c.5861C>G (p.Ser1954Cys) rs563948892 0.00006
NM_170606.3(KMT2C):c.5634A>C (p.Ser1878=) rs558012126 0.00004
NM_170606.3(KMT2C):c.10957C>T (p.Pro3653Ser) rs771311951 0.00002
NM_170606.3(KMT2C):c.1223C>T (p.Thr408Met) rs773970643 0.00002
NM_170606.3(KMT2C):c.13789C>T (p.Arg4597Cys) rs543734103 0.00002
NM_170606.3(KMT2C):c.4576G>T (p.Ala1526Ser) rs534362919 0.00002
NM_170606.3(KMT2C):c.5713C>G (p.Pro1905Ala) rs769183090 0.00002
NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu) rs567451018 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170606.3(KMT2C):c.10040A>G (p.Asn3347Ser)
NM_170606.3(KMT2C):c.11225G>C (p.Ser3742Thr)
NM_170606.3(KMT2C):c.12093G>A (p.Pro4031=)
NM_170606.3(KMT2C):c.12151A>G (p.Arg4051Gly)
NM_170606.3(KMT2C):c.1402C>G (p.Pro468Ala) rs140919432
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.2662T>A (p.Ser888Thr)
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
NM_170606.3(KMT2C):c.3283A>G (p.Arg1095Gly) rs760716705
NM_170606.3(KMT2C):c.372T>G (p.Gly124=)
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.4507+5A>G rs2129129571
NM_170606.3(KMT2C):c.4548C>T (p.Gly1516=)
NM_170606.3(KMT2C):c.5683A>G (p.Met1895Val)
NM_170606.3(KMT2C):c.591-18ATTTT[2] rs552048274
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892
NM_170606.3(KMT2C):c.6751C>T (p.Leu2251=)
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
NM_170606.3(KMT2C):c.7388G>A (p.Arg2463His)
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTA
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTA rs1491309235
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTA rs1491309235
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTA rs1491309235
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTA
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTTA
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170606.3(KMT2C):c.8390dup (p.Glu2798fs) rs747256476
NM_170606.3(KMT2C):c.8879C>T (p.Pro2960Leu)
NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del) rs772433974
Single allele

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