ClinVar Miner

Variants with conflicting interpretations studied for KMT2A-related condition

Minimum review status of the submission for KMT2A-related condition: Collection method of the submission for KMT2A-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
24 36 0 29 10 0 0 38

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
KMT2A-related condition uncertain significance likely benign benign
uncertain significance 0 2 0
likely benign 8 0 24
benign 0 5 0

Condition to condition summary #

Total conditions: 2
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 36 0 29 9 0 0 38
not specified 0 1 0 2 1 0 0 3

All variants with conflicting interpretations #

Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.4254A>T (p.Gly1418=) rs147072909 0.00178
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_001197104.2(KMT2A):c.10547G>A (p.Gly3516Glu) rs149137886 0.00110
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00097
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val) rs145249825 0.00076
NM_001197104.2(KMT2A):c.7304C>G (p.Ser2435Cys) rs76721917 0.00071
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_001197104.2(KMT2A):c.5733G>A (p.Ala1911=) rs151337923 0.00036
NM_001197104.2(KMT2A):c.7983G>C (p.Lys2661Asn) rs142807735 0.00036
NM_001197104.2(KMT2A):c.2943A>G (p.Pro981=) rs146028064 0.00035
NM_001197104.2(KMT2A):c.11391T>C (p.Asn3797=) rs2276058 0.00028
NM_001197104.2(KMT2A):c.6185C>T (p.Thr2062Ile) rs145061625 0.00028
NM_001197104.2(KMT2A):c.8214G>A (p.Arg2738=) rs138868861 0.00023
NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=) rs150502030 0.00021
NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=) rs9332844 0.00016
NM_001197104.2(KMT2A):c.9165T>C (p.Asp3055=) rs143721596 0.00015
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr) rs142658261 0.00012
NM_001197104.2(KMT2A):c.9400C>T (p.Leu3134Phe) rs138969270 0.00007
NM_001197104.2(KMT2A):c.4889G>A (p.Arg1630Gln) rs143317202 0.00005
NM_001197104.2(KMT2A):c.218G>A (p.Gly73Glu) rs782233787 0.00003
NM_001197104.2(KMT2A):c.5589G>T (p.Glu1863Asp) rs565762131 0.00003
NM_001197104.2(KMT2A):c.4696+6C>A rs534620846 0.00002
NM_001197104.2(KMT2A):c.10288T>G (p.Cys3430Gly) rs373345566 0.00001
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) rs9332746 0.00001
NM_001197104.2(KMT2A):c.2004T>G (p.Ser668=) rs147102502 0.00001
NM_001197104.2(KMT2A):c.4100C>T (p.Pro1367Leu) rs550235275 0.00001
NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu) rs782800112 0.00001
NM_001197104.2(KMT2A):c.11147-5_11147-3del rs369393980
NM_001197104.2(KMT2A):c.3796C>T (p.Pro1266Ser)
NM_001197104.2(KMT2A):c.4696+5C>G
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro)

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