ClinVar Miner

Variants with conflicting interpretations studied for Developmental and epileptic encephalopathy 94

Coded as:
Minimum review status of the submission for Developmental and epileptic encephalopathy 94: Collection method of the submission for Developmental and epileptic encephalopathy 94:
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
1581 56 0 9 12 0 7 26

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
Developmental and epileptic encephalopathy 94 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 3 0 0
likely pathogenic 6 0 6 0 0
uncertain significance 3 6 0 9 3
likely benign 0 0 9 0 3
benign 0 0 3 3 0

Condition to condition summary #

Total conditions: 1
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
Developmental and epileptic encephalopathy 94 1581 56 0 9 12 0 7 26

All variants with conflicting interpretations #

Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly) rs927604763 0.00001
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001271.4(CHD2):c.692+10A>G rs370469675

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