ClinVar Miner

Variants with conflicting interpretations studied for KMT2C-related condition

Minimum review status of the submission for KMT2C-related condition: Collection method of the submission for KMT2C-related condition:
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
41 42 0 30 7 0 1 36

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.

All conditions
KMT2C-related condition likely pathogenic uncertain significance likely benign benign
uncertain significance 0 0 3 0
likely benign 1 3 0 25
benign 0 1 5 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
not provided 0 43 0 30 5 0 0 34
See cases 0 1 0 0 1 0 0 1
Tip-toe gait 0 0 0 0 0 0 1 1
atypical cerebral palsy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 36
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HGVS dbSNP gnomAD frequency
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.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.6073T>A (p.Ser2025Thr) rs141338021 0.00208
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.8488A>C (p.Asn2830His) rs147851738 0.00048
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.10403C>T (p.Pro3468Leu) rs565114967 0.00025
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.6910A>G (p.Met2304Val) rs754015217 0.00009
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.5713C>G (p.Pro1905Ala) rs769183090 0.00002
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.372T>G (p.Gly124=)
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.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.9109_9111del (p.Leu3037del) rs772433974

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